diff --git a/.github/workflows/test-runner.yml b/.github/workflows/test-runner.yml index 8886ca39..a443b567 100644 --- a/.github/workflows/test-runner.yml +++ b/.github/workflows/test-runner.yml @@ -42,3 +42,24 @@ jobs: - name: Run pytest preprocessing run: pytest -v ${{ github.workspace }}/tests/preprocessing shell: micromamba-shell {0} + + DeepRVAT-Tests-Runner-Annotations: + runs-on: ubuntu-latest + steps: + + - name: Check out repository code + uses: actions/checkout@v4 + - uses: mamba-org/setup-micromamba@v1.8.0 + with: + environment-name: deeprvat-annotation-gh-action + environment-file: ${{ github.workspace }}/deeprvat_annotations.yml + cache-environment: true + cache-downloads: true + + - name: Install DeepRVAT + run: pip install -e ${{ github.workspace }} + shell: micromamba-shell {0} + + - name: Run pytest annotations + run: pytest -v ${{ github.workspace }}/tests/annotations + shell: micromamba-shell {0} diff --git a/deeprvat/annotations/annotations.py b/deeprvat/annotations/annotations.py index ee534712..2ca4f2f8 100644 --- a/deeprvat/annotations/annotations.py +++ b/deeprvat/annotations/annotations.py @@ -1,5 +1,7 @@ import logging import os + +os.environ["TF_CPP_MIN_LOG_LEVEL"] = "1" import pickle import random import sys @@ -1080,7 +1082,7 @@ def aggregate_abscores( delayed(process_chunk)( i, abs_splice_res_dir, tissues_to_exclude, tissue_agg_function, ca_shortened ) - for i in tqdm(os.listdir(abs_splice_res_dir)) + for i in tqdm(sorted(os.listdir(abs_splice_res_dir))) ) all_absplice_scores = list(output_generator) @@ -1360,45 +1362,6 @@ def merge_deepsea_pcas( merged.to_parquet(out_file) -@cli.command() -@click.argument("in_variants", type=click.Path(exists=True)) -@click.argument("out_variants", type=click.Path()) -def process_annotations(in_variants: str, out_variants: str): - """ - Process variant annotations, filter for canonical variants, and aggregate consequences. - - Parameters: - - in_variants (str): Path to the input variant annotation file in parquet format. - - out_variants (str): Path to save the processed variant annotation file in parquet format. - - Returns: - None - - Notes: - - The function reads the input variant annotation file. - - It filters for canonical variants where the 'CANONICAL' column is equal to 'YES'. - - The 'Gene' column is renamed to 'gene_id'. - - Consequences for different alleles are aggregated by combining the variant ID with the gene ID. - - The processed variant annotations are saved to the specified output file. - - Example: - $ python annotations.py process_annotations input_variants.parquet output_variants.parquet - """ - variant_path = Path(in_variants) - variants = pd.read_parquet(variant_path) - - logger.info("filtering for canonical variants") - - variants = variants.loc[variants.CANONICAL == "YES"] - variants.rename(columns={"Gene": "gene_id"}, inplace=True) - - logger.info("aggregating consequences for different alleles") - - # combining variant id with gene id - variants["censequence_id"] = variants["id"].astype(str) + variants["gene_id"] - variants.to_parquet(out_variants, compression="zstd") - - def process_chunk_addids(chunk: pd.DataFrame, variants: pd.DataFrame) -> pd.DataFrame: """ Process a chunk of data by adding identifiers from a variants dataframe. @@ -1507,16 +1470,14 @@ def add_ids(annotation_file: str, variant_file: str, njobs: int, out_file: str): @cli.command() @click.argument("annotation_file", type=click.Path(exists=True)) @click.argument("variant_file", type=click.Path(exists=True)) -@click.argument("njobs", type=int) @click.argument("out_file", type=click.Path()) -def add_ids_dask(annotation_file: str, variant_file: str, njobs: int, out_file: str): +def add_ids_dask(annotation_file: str, variant_file: str, out_file: str): """ Add identifiers from a variant file to an annotation file using Dask and save the result. Parameters: - annotation_file (str): Path to the input annotation file in Parquet format. - variant_file (str): Path to the input variant file in Parquet format. - - njobs (int): Number of parallel jobs to process the data. - out_file (str): Path to save the processed data in Parquet format. Returns: @@ -1532,7 +1493,7 @@ def add_ids_dask(annotation_file: str, variant_file: str, njobs: int, out_file: $ python annotations.py add_ids_dask annotation_data.parquet variant_data.parquet 4 processed_data.parquet """ data = dd.read_parquet(annotation_file, blocksize=25e9) - all_variants = pd.read_table(variant_file) + all_variants = pd.read_parquet(variant_file) data = data.rename( columns={ "#CHROM": "chrom", @@ -1705,7 +1666,7 @@ def merge_annotations( logger.info("load variant_file") logger.info(f"reading in {variant_file}") - variants = pd.read_csv(variant_file, sep="\t") + variants = pd.read_parquet(variant_file) logger.info("merge vep to variants M:1") ca = vep_df.merge( @@ -1777,7 +1738,23 @@ def process_vep( vcf_file, names=["chrom", "pos", "#Uploaded_variation", "ref", "alt"] ) if "#Uploaded_variation" in vep_file.columns: - vep_file = vep_file.merge(vcf_df, on="#Uploaded_variation") + vep_file = vep_file.merge(vcf_df, on="#Uploaded_variation", how="left") + if vep_file.chrom.isna().sum() > 0: + vep_file.loc[vep_file.chrom.isna(), ["chrom", "pos", "ref", "alt"]] = ( + vep_file[vep_file["chrom"].isna()]["#Uploaded_variation"] + .str.replace("_", ":") + .str.replace("/", ":") + .str.split(":", expand=True) + .values + ) + assert vep_file.chrom.isna().sum() == 0 + assert vep_file.pos.isna().sum() == 0 + assert vep_file.ref.isna().sum() == 0 + assert vep_file.alt.isna().sum() == 0 + assert ( + vep_file[["chrom", "pos", "ref", "alt"]].drop_duplicates().shape + == vcf_df[["chrom", "pos", "ref", "alt"]].drop_duplicates().shape + ) if "pos" in vep_file.columns: vep_file["pos"] = vep_file["pos"].astype(int) @@ -1979,7 +1956,7 @@ def get_af_from_gt(genotype_file: str, variants_filepath: str, out_file: str): """ import h5py - variants = pd.read_table(variants_filepath) + variants = pd.read_parquet(variants_filepath) max_variant_id = variants["id"].max() logger.info("Computing allele frequencies") @@ -2042,19 +2019,19 @@ def calculate_maf(annotations_path: str, out_file: str): @cli.command() -@click.argument("protein_id_file", type=click.Path(exists=True)) +@click.argument("gene_id_file", type=click.Path(exists=True)) @click.argument("annotations_path", type=click.Path(exists=True)) @click.argument("out_file", type=click.Path()) -def add_protein_ids(protein_id_file: str, annotations_path: str, out_file: str): +def add_gene_ids(gene_id_file: str, annotations_path: str, out_file: str): """ - Add protein IDs to the annotations based on protein ID mapping file. + Add gene IDs to the annotations based on gene ID mapping file. Parameters: - - protein_id_file (str): Path to the protein ID mapping file. + - gene_id_file (str): Path to the gene ID mapping file. - annotations_path (str): Path to the annotations file. - out_file (str): Path to the output file to save the annotations with protein IDs. """ - genes = pd.read_parquet(protein_id_file) + genes = pd.read_parquet(gene_id_file) genes[["gene_base", "feature"]] = genes["gene"].str.split(".", expand=True) genes.drop(columns=["feature", "gene", "gene_name", "gene_type"], inplace=True) genes.rename(columns={"id": "gene_id"}, inplace=True) @@ -2069,7 +2046,7 @@ def add_protein_ids(protein_id_file: str, annotations_path: str, out_file: str): @cli.command() @click.argument("gtf_filepath", type=click.Path(exists=True)) @click.argument("out_file", type=click.Path()) -def create_protein_id_file(gtf_filepath: str, out_file: str): +def create_gene_id_file(gtf_filepath: str, out_file: str): """ Create a protein ID mapping file from the GTF file. diff --git a/deeprvat/cv_utils.py b/deeprvat/cv_utils.py index 7c97271e..68a285e5 100644 --- a/deeprvat/cv_utils.py +++ b/deeprvat/cv_utils.py @@ -59,9 +59,11 @@ def spread_config( cv_path = f"{config_template['cv_path']}/{n_folds}_fold" for module in data_modules: config = copy.deepcopy(config_template) - sample_file = f"{cv_path}/samples_{split}{fold}.pkl" - logger.info(f"setting sample file {sample_file}") - config["sample_file"] = sample_file + data_slots = DATA_SLOT_DICT[module] + for data_slot in data_slots: + sample_file = f"{cv_path}/samples_{split}{fold}.pkl" + logger.info(f"setting sample file {sample_file}") + config[data_slot]["dataset_config"]["sample_file"] = sample_file if (module == "deeprvat") | (module == "deeprvat_pretrained"): logger.info("Writing baseline directories") @@ -89,7 +91,8 @@ def generate_test_config(input_config, out_file, fold, n_folds): split = "test" sample_file = f"{cv_path}/samples_{split}{fold}.pkl" logger.info(f"setting sample file {sample_file}") - config["sample_file"] = sample_file + for data_slot in DATA_SLOT_DICT["deeprvat"]: + config[data_slot]["dataset_config"]["sample_file"] = sample_file with open(out_file, "w") as f: yaml.dump(config, f) diff --git a/deeprvat/data/dense_gt.py b/deeprvat/data/dense_gt.py index 7ebdaea9..12247518 100644 --- a/deeprvat/data/dense_gt.py +++ b/deeprvat/data/dense_gt.py @@ -362,7 +362,7 @@ def setup_phenotypes( # account for the fact that genotypes.h5 and phenotype_df can have different # orders of their samples self.index_map_geno, _ = get_matched_sample_indices( - samples_gt.astype(str), self.samples.astype(str) + samples_gt.astype(int), self.samples.astype(int) ) # get_matched_sample_indices is a much, much faster implementation of the code below # self.index_map_geno = [np.where(samples_gt.astype(int) == i) for i in self.samples.astype(int)] @@ -614,20 +614,13 @@ def setup_variants( "Annotation dataframe has inconsistent allele frequency values" ) variants_with_af = safe_merge( - variants[["id"]].reset_index(drop=True), af_annotation, how="left" + variants[["id"]].reset_index(drop=True), af_annotation ) assert np.all( variants_with_af["id"].to_numpy() == variants["id"].to_numpy() ) - af_isna = variants_with_af[af_col].isna() - if af_isna.sum() > 0: - logger.warning( - f"Dropping {af_isna.sum()} variants missing from annotation dataframe" - ) - mask = ( - (~af_isna) - & (variants_with_af[af_col] >= af_threshold) - & (variants_with_af[af_col] <= 1 - af_threshold) + mask = (variants_with_af[af_col] >= af_threshold) & ( + variants_with_af[af_col] <= 1 - af_threshold ) mask = mask.to_numpy() del variants_with_af @@ -938,10 +931,11 @@ def get_metadata(self) -> Dict[str, Any]: result = { "variant_metadata": self.variants[ ["id", "common_variant_mask", "rare_variant_mask", "matrix_index"] - ], - "samples": self.samples, + ] } if self.use_rare_variants: if hasattr(self.rare_embedding, "get_metadata"): - result["rare_embedding_metadata"] = self.rare_embedding.get_metadata() + result.update( + {"rare_embedding_metadata": self.rare_embedding.get_metadata()} + ) return result diff --git a/deeprvat/deeprvat/associate.py b/deeprvat/deeprvat/associate.py index 03404067..5af2e770 100644 --- a/deeprvat/deeprvat/associate.py +++ b/deeprvat/deeprvat/associate.py @@ -7,7 +7,7 @@ import sys from pathlib import Path from pprint import pprint -from typing import Dict, List, Optional, Tuple, Union +from typing import Dict, List, Optional, Tuple import click import dask.dataframe as dd @@ -115,7 +115,9 @@ def cli(): def make_dataset_( config: Dict, + debug: bool = False, data_key="data", + samples: Optional[List[int]] = None, ) -> Dataset: """ Create a dataset based on the configuration. @@ -147,17 +149,29 @@ def make_dataset_( **copy.deepcopy(data_config["dataset_config"]), ) + restrict_samples = config.get("restrict_samples", None) + if debug: + logger.info("Debug flag set; Using only 1000 samples") + ds = Subset(ds, range(1_000)) + elif samples is not None: + ds = Subset(ds, samples) + elif restrict_samples is not None: + ds = Subset(ds, range(restrict_samples)) + return ds @cli.command() +@click.option("--debug", is_flag=True) @click.option("--data-key", type=str, default="data") -@click.argument("config-file", type=click.Path(exists=True, path_type=Path)) -@click.argument("out-file", type=click.Path(path_type=Path)) -def make_dataset(data_key: str, config_file: Path, out_file: Path): +@click.argument("config-file", type=click.Path(exists=True)) +@click.argument("out-file", type=click.Path()) +def make_dataset(debug: bool, data_key: str, config_file: str, out_file: str): """ Create a dataset based on the provided configuration and save to a pickle file. + :param debug: Flag for debugging. + :type debug: bool :param data_key: Key for dataset configuration in the config dictionary, defaults to "data". :type data_key: str :param config_file: Path to the configuration file. @@ -169,7 +183,7 @@ def make_dataset(data_key: str, config_file: Path, out_file: Path): with open(config_file) as f: config = yaml.safe_load(f) - ds = make_dataset_(config, data_key=data_key) + ds = make_dataset_(config, debug=debug, data_key=data_key) with open(out_file, "wb") as f: pickle.dump(ds, f) @@ -222,8 +236,6 @@ def compute_burdens_( .. note:: Checkpoint models all corresponding to the same repeat are averaged for that repeat. """ - logger.setLevel(logging.INFO) - if not skip_burdens: logger.info("agg_models[*][*].reverse:") pprint( @@ -235,38 +247,10 @@ def compute_burdens_( data_config = config["data"] - if "sample_file" in config: - sample_file = Path(config["sample_file"]) - logger.info(f"Using samples from {sample_file}") - if sample_file.suffix == ".pkl": - with open(sample_file, "rb") as f: - sample_ids = np.array(pickle.load(f)) - elif sample_file.suffix == ".zarr": - sample_ids = zarr.load(sample_file) - elif sample_file.suffix == ".npy": - sample_ids = np.load(sample_file) - else: - raise ValueError("Unknown file type for sample_file") - ds_samples = ds.get_metadata()["samples"] - sample_indices = np.where( - np.isin(ds_samples.astype(str), sample_ids.astype(str)) - )[0] - if debug: - sample_indices = sample_indices[:1000] - elif debug: - sample_indices = np.arange(min(1000, len(ds))) - else: - sample_indices = np.arange(len(ds)) - - logger.info( - f"Computing gene impairment for {sample_indices.shape[0]} samples: {sample_indices}" - ) - ds = Subset(ds, sample_indices) - - ds_full = ds.dataset # if isinstance(ds, Subset) else ds + ds_full = ds.dataset if isinstance(ds, Subset) else ds collate_fn = getattr(ds_full, "collate_fn", None) n_total_samples = len(ds) - ds_full.rare_embedding.skip_embedding = skip_burdens + ds.rare_embedding.skip_embedding = skip_burdens if chunk is not None: if n_chunks is None: @@ -919,7 +903,7 @@ def compute_burdens( with open(dataset_file, "rb") as f: dataset = pickle.load(f) else: - dataset = make_dataset_(data_config) + dataset = make_dataset_(config) if torch.cuda.is_available(): logger.info("Using GPU") diff --git a/deeprvat/deeprvat/train.py b/deeprvat/deeprvat/train.py index ae9995a0..d730e03d 100644 --- a/deeprvat/deeprvat/train.py +++ b/deeprvat/deeprvat/train.py @@ -82,9 +82,8 @@ def subset_samples( input_tensor: torch.Tensor, covariates: torch.Tensor, y: torch.Tensor, - sample_ids: torch.Tensor, min_variant_count: int, -) -> Tuple[torch.Tensor, torch.Tensor, torch.Tensor, torch.Tensor]: +) -> Tuple[torch.Tensor, torch.Tensor, torch.Tensor]: # First sum over annotations (dim 2) for each variant in each gene. # Then get the number of non-zero values across all variants in all # genes for each sample. @@ -106,23 +105,21 @@ def subset_samples( input_tensor = input_tensor[mask] covariates = covariates[mask] y = y[mask] - sample_ids = sample_ids[mask] logger.info(f"{input_tensor.shape[0]} / {n_samples_orig} samples kept") - return input_tensor, covariates, y, sample_ids + return input_tensor, covariates, y def make_dataset_( debug: bool, pickle_only: bool, compression_level: int, - training_dataset_file: Optional[Path], + training_dataset_file: Optional[str], config_file: Union[str, Path], - input_tensor_out_file: Path, - covariates_out_file: Path, - y_out_file: Path, - samples_out_file: Path, + input_tensor_out_file: str, + covariates_out_file: str, + y_out_file: str, ): """ Subfunction of make_dataset() @@ -228,11 +225,10 @@ def make_dataset_( ) covariates = torch.cat([b["x_phenotypes"] for b in batches]) y = torch.cat([b["y"] for b in batches]) - sample_ids = np.concatenate([b["sample"] for b in batches]) logger.info("Subsetting samples by min_variant_count and missing y values") - input_tensor, covariates, y, sample_ids = subset_samples( - input_tensor, covariates, y, sample_ids, config["training"]["min_variant_count"] + input_tensor, covariates, y = subset_samples( + input_tensor, covariates, y, config["training"]["min_variant_count"] ) if not pickle_only: @@ -246,7 +242,6 @@ def make_dataset_( del input_tensor zarr.save_array(covariates_out_file, covariates.numpy()) zarr.save_array(y_out_file, y.numpy()) - zarr.save_array(samples_out_file, sample_ids) # DEBUG return ds.dataset @@ -256,22 +251,20 @@ def make_dataset_( @click.option("--debug", is_flag=True) @click.option("--pickle-only", is_flag=True) @click.option("--compression-level", type=int, default=1) -@click.option("--training-dataset-file", type=click.Path(exists=True, path_type=Path)) -@click.argument("config-file", type=click.Path(exists=True, path_type=Path)) -@click.argument("input-tensor-out-file", type=click.Path(path_type=Path)) -@click.argument("covariates-out-file", type=click.Path(path_type=Path)) -@click.argument("y-out-file", type=click.Path(path_type=Path)) -@click.argument("samples-out-file", type=click.Path(path_type=Path)) +@click.option("--training-dataset-file", type=click.Path()) +@click.argument("config-file", type=click.Path(exists=True)) +@click.argument("input-tensor-out-file", type=click.Path()) +@click.argument("covariates-out-file", type=click.Path()) +@click.argument("y-out-file", type=click.Path()) def make_dataset( debug: bool, pickle_only: bool, compression_level: int, - training_dataset_file: Optional[Path], - config_file: Path, - input_tensor_out_file: Path, - covariates_out_file: Path, - y_out_file: Path, - samples_out_file: Path, + training_dataset_file: Optional[str], + config_file: str, + input_tensor_out_file: str, + covariates_out_file: str, + y_out_file: str, ): """ Uses function make_dataset_() to convert dataset to sparse format and stores the respective data @@ -305,7 +298,6 @@ def make_dataset( input_tensor_out_file, covariates_out_file, y_out_file, - samples_out_file, ) @@ -369,10 +361,9 @@ def __init__( logger.info("Keeping all input tensors in main memory") for pheno, pheno_data in self.data.items(): - n_samples = pheno_data["sample_indices"].shape[0] - if pheno_data["y"].shape == (n_samples, 1): + if pheno_data["y"].shape == (pheno_data["input_tensor_zarr"].shape[0], 1): pheno_data["y"] = pheno_data["y"].squeeze() - elif pheno_data["y"].shape != (n_samples,): + elif pheno_data["y"].shape != (pheno_data["input_tensor_zarr"].shape[0],): raise NotImplementedError( "Multi-phenotype training is only implemented via multiple y files" ) @@ -593,10 +584,8 @@ def __init__( self.n_annotations = any_pheno_data["input_tensor_zarr"].shape[2] self.n_covariates = any_pheno_data["covariates"].shape[1] - for pheno, pheno_data in self.data.items(): - # n_samples = pheno_data["input_tensor_zarr"].shape[0] - sample_indices = pheno_data["sample_indices"] - n_samples = sample_indices.shape[0] + for _, pheno_data in self.data.items(): + n_samples = pheno_data["input_tensor_zarr"].shape[0] assert pheno_data["covariates"].shape[0] == n_samples assert pheno_data["y"].shape[0] == n_samples @@ -611,33 +600,29 @@ def __init__( samples = self.upsample() n_samples = self.samples.shape[0] logger.info(f"New sample number: {n_samples}") - # else: - # samples = np.arange(n_samples) + else: + samples = np.arange(n_samples) # Sample self.n_samples * train_proportion samples with replacement # for training, use all remaining samples for validation if train_proportion == 1.0: - self.train_samples = sample_indices - self.val_samples = sample_indices + self.train_samples = self.samples + self.val_samples = self.samples else: n_train_samples = round(n_samples * train_proportion) rng = np.random.default_rng() # select training samples from the underlying dataframe train_samples = np.sort( rng.choice( - sample_indices, - size=n_train_samples, - replace=sample_with_replacement, + samples, size=n_train_samples, replace=sample_with_replacement ) ) # samples which are not part of train_samples, but in samples # are validation samples. - val_samples = np.setdiff1d(sample_indices, train_samples) - logger.info( - f"{pheno}: Using {train_samples.shape[0]} samples for training, " - f"{val_samples.shape[0]} for validation" - ) - pheno_data["samples"] = {"train": train_samples, "val": val_samples} + pheno_data["samples"] = { + "train": train_samples, + "val": np.setdiff1d(samples, train_samples), + } self.save_hyperparameters( # "min_variant_count", @@ -655,8 +640,6 @@ def upsample(self) -> np.ndarray: does not work at the moment for multi-phenotype training. Needs some minor changes to make it work again """ - raise NotImplementedError - unique_values = self.y.unique() if unique_values.size() != torch.Size([2]): raise ValueError( @@ -945,19 +928,18 @@ def run_bagging( @cli.command() @click.option("--debug", is_flag=True) -@click.option("--training-gene-file", type=click.Path(exists=True, path_type=Path)) +@click.option("--training-gene-file", type=click.Path(exists=True)) @click.option("--n-trials", type=int, default=1) @click.option("--trial-id", type=int) -@click.option("--samples-to-keep", type=click.Path(exists=True, path_type=Path)) +@click.option("--sample-file", type=click.Path(exists=True)) @click.option( "--phenotype", multiple=True, type=( str, - click.Path(exists=True, path_type=Path), - click.Path(exists=True, path_type=Path), - click.Path(exists=True, path_type=Path), - click.Path(exists=True, path_type=Path), + click.Path(exists=True), + click.Path(exists=True), + click.Path(exists=True), ), ) @click.argument("config-file", type=click.Path(exists=True)) @@ -965,11 +947,11 @@ def run_bagging( @click.argument("hpopt-file", type=click.Path()) def train( debug: bool, - training_gene_file: Optional[Path], + training_gene_file: Optional[str], n_trials: int, trial_id: Optional[int], - samples_to_keep: Optional[Path], - phenotype: Tuple[Tuple[str, Path, Path, Path, Path]], + sample_file: Optional[str], + phenotype: Tuple[Tuple[str, str, str, str]], config_file: str, log_dir: str, hpopt_file: str, @@ -985,8 +967,8 @@ def train( :type n_trials: int :param trial_id: Current trial in range n_trials. (optional) :type trial_id: Optional[int] - :param samples_to_keep: Path to a pickle file specifying which samples should be considered during training. (optional) - :type samples_to_keep: Optional[str] + :param sample_file: Path to a pickle file specifying which samples should be considered during training. (optional) + :type sample_file: Optional[str] :param phenotype: Array of phenotypes, containing an array of paths where the underlying data is stored: - str: Phenotype name - str: Annotated gene variants as zarr file @@ -1020,57 +1002,30 @@ def train( logger.info(f"GPU memory: {torch.cuda.get_device_properties(0).total_memory}") logger.info("Loading input data") - - if samples_to_keep is not None or "sample_file" in config: - if samples_to_keep is not None: - keep_sample_file = samples_to_keep - if "sample_file" in config: - logger.warning( - f"--samples-to-keep option overrides sample_file in config.yaml" - ) - else: - keep_sample_file = Path(config["sample_file"]) - - logger.info(f"Using samples from {keep_sample_file}") - if keep_sample_file.suffix == ".pkl": - with open(keep_sample_file, "rb") as f: - sample_ids = np.array(pickle.load(f)) - elif keep_sample_file.suffix == ".zarr": - sample_ids = zarr.load(keep_sample_file) - elif keep_sample_file.suffix == ".npy": - sample_ids = np.load(keep_sample_file) - else: - raise ValueError("Unknown file type for sample_file") + if sample_file is not None: + logger.info(f"Using training samples from {sample_file}") + with open(sample_file, "rb") as f: + samples = pickle.load(f)["training_samples"] + if debug: + samples = [s for s in samples if s < 1000] else: - sample_ids = None + samples = slice(None) data = dict() # pack underlying data into a single dict that can be passed to downstream functions - for pheno, input_tensor_file, covariates_file, y_file, sample_file in phenotype: + for pheno, input_tensor_file, covariates_file, y_file in phenotype: data[pheno] = dict() data[pheno]["input_tensor_zarr"] = zarr.open( input_tensor_file, mode="r" ) # TODO: subset here? - n_samples = data[pheno]["input_tensor_zarr"].shape[0] - - data[pheno]["sample_ids"] = zarr.load(sample_file) - sample_indices = np.arange(n_samples) - if sample_ids is not None: - sample_indices = sample_indices[ - np.isin(data[pheno]["sample_ids"], sample_ids) - ] - - if debug: - sample_indices = sample_indices[:1000] - - data[pheno]["sample_indices"] = sample_indices - data[pheno]["covariates"] = torch.tensor( - zarr.load(covariates_file)[sample_indices] - ) # TODO: or maybe shouldn't subset here? - data[pheno]["y"] = torch.tensor( - zarr.load(y_file)[sample_indices] - ) # TODO: or maybe shouldn't subset here? + zarr.open(covariates_file, mode="r")[:] + )[ + samples + ] # TODO: or maybe shouldn't subset here? + data[pheno]["y"] = torch.tensor(zarr.open(y_file, mode="r")[:])[ + samples + ] # TODO: or maybe shouldn't subset here? if training_gene_file is not None: with open(training_gene_file, "rb") as f: diff --git a/deeprvat/utils.py b/deeprvat/utils.py index 2cbbc1ea..a9c18801 100644 --- a/deeprvat/utils.py +++ b/deeprvat/utils.py @@ -225,7 +225,6 @@ def safe_merge( right: pd.DataFrame, validate: str = "1:1", equal_row_nums: bool = False, - **kwargs, ): """ Safely merge two pandas DataFrames. @@ -252,7 +251,7 @@ def safe_merge( "left and right dataframes are unequal" ) - merged = pd.merge(left, right, validate=validate, **kwargs) + merged = pd.merge(left, right, validate=validate) try: assert len(merged) == len(left) diff --git a/deeprvat_annotations.yml b/deeprvat_annotations.yml index 0c4b6896..dd6feb6e 100644 --- a/deeprvat_annotations.yml +++ b/deeprvat_annotations.yml @@ -16,6 +16,7 @@ dependencies: - tensorflow=2.11.0 - pyarrow=11.0.0 - fastparquet=2023.4.0 + - bioconda::pyranges=0.0.129 #comment out lines below if you want to use preinstalled bcftools or samtools - bcftools=1.17 - samtools=1.17 diff --git a/docs/annotations.md b/docs/annotations.md index 94bd9ff7..29e079fa 100644 --- a/docs/annotations.md +++ b/docs/annotations.md @@ -88,6 +88,12 @@ Data for VEP plugins and the CADD cache are stored in `annotation data`. ## Running the annotation pipeline ### Preconfiguration +- Install the annotation environment + ```shell + mamba env create -f path/to/deeprvat/deeprvat_annotations.yml + mamba activate deeprvat_annotations + pip install -e path/to/deeprvat + ``` - Clone the repositories mentioned in [requirements](#requirements) into `repo_dir` and install the needed conda environments with ```shell mamba env create -f repo_dir/absplice/environment.yaml diff --git a/example/annotations/preprocessing_workdir/norm/variants/variants.tsv.gz b/example/annotations/preprocessing_workdir/norm/variants/variants.parquet similarity index 100% rename from example/annotations/preprocessing_workdir/norm/variants/variants.tsv.gz rename to example/annotations/preprocessing_workdir/norm/variants/variants.parquet diff --git a/example/config.yaml b/example/config.yaml index 435a4b22..c6a6a3fb 100644 --- a/example/config.yaml +++ b/example/config.yaml @@ -22,9 +22,6 @@ baseline_results: base: baseline_results type: missense/skat -cv_path: sample_files -n_folds: 5 - alpha: 0.05 n_burden_chunks: 2 diff --git a/pipelines/annotations.snakefile b/pipelines/annotations.snakefile index f3b617c5..db3c6d4d 100644 --- a/pipelines/annotations.snakefile +++ b/pipelines/annotations.snakefile @@ -52,7 +52,7 @@ included_chromosomes = config.get( ) preprocess_dir = Path(config.get("preprocessing_workdir", "")) -variant_file = config.get("variant_file_path") or preprocess_dir / 'norm' / 'variants' / 'variants.tsv.gz' +variant_pq = config.get("variant_parquetfile_path") or preprocess_dir / 'norm' / 'variants' / 'variants.parquet' genotype_file = config.get("genotype_file_path") or preprocess_dir / 'preprocessed' / 'genotypes.h5' saved_deepripe_models_path = ( Path(config["faatpipe_repo_dir"]) / "data" / "deepripe_models" @@ -84,7 +84,10 @@ vep_input_format = config.get("vep_input_format") or "vcf" vep_nfork = int(config.get("vep_nfork") or 5) af_mode = config.get("af_mode") or "af" condel_config_path = vep_plugin_dir / "config" / "Condel" / "config" - +if config.get('additional_vep_plugin_cmds'): + VEP_plugin_cmds = config['additional_vep_plugin_cmds'].values() +else: + VEP_plugin_cmds = [] #init deepSEA deepSEA_tmp_dir = config.get('deepSEA_tmp_dir')or anno_tmp_dir / 'deepSEA_PCA' @@ -115,7 +118,8 @@ file_paths = [ file_paths = list(chain.from_iterable(file_paths)) human_sort(file_paths) -file_stems = [Path(p).stem.split('.')[0] for p in file_paths] +file_stems = [re.compile(source_variant_file_pattern.format(chr = "(\d+|X|Y)",block='\d+')).search(i).group() for i in file_paths] + absplice_download_dir = config.get('absplice_download_dir') or absplice_repo_dir /'example'/'data'/'resources'/'downloaded_files' absplice_output_dir = config.get('absplice_output_dir', anno_tmp_dir /'absplice') @@ -165,7 +169,7 @@ rule select_rename_fill_columns: resources: mem_mb = lambda wildcards, attempt: 15_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", + f"deeprvat_annotations", "select-rename-fill-annotations", "{input.yaml_file}", "{input.annotations_path}", @@ -182,8 +186,8 @@ if not gene_id_file: resources: mem_mb = lambda wildcards, attempt: 15_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", - "create-protein-id-file", + f"deeprvat_annotations", + "create-gene-id-file", "{input}", "{output}" ]) @@ -198,7 +202,7 @@ rule filter_by_exon_distance: resources: mem_mb = lambda wildcards, attempt: 25_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", + f"deeprvat_annotations", "filter-annotations-by-exon-distance", "{input.annotations_path}", "{input.gtf_file}", @@ -214,8 +218,8 @@ rule add_gene_ids: resources: mem_mb = lambda wildcards, attempt: 19_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", - "add-protein-ids", + f"deeprvat_annotations", + "add-gene-ids", "{input.gene_id_file}", "{input.annotations_path}", "{output}" @@ -230,7 +234,7 @@ rule calculate_MAF: resources: mem_mb = lambda wildcards, attempt: 15_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", + f"deeprvat_annotations", "calculate-maf", "{input}", "{output}" @@ -249,7 +253,7 @@ rule merge_allele_frequency: resources: mem_mb = lambda wildcards, attempt: 15_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", + f"deeprvat_annotations", "merge-af", "{input.annotation_file}", "{input.allele_frequencies}", @@ -264,13 +268,13 @@ rule merge_allele_frequency: rule calculate_allele_frequency: input: genotype_file = genotype_file, - variants = variant_file + variants = variant_pq output: allele_frequencies = anno_tmp_dir / "af_df.parquet" resources: mem_mb = lambda wildcards, attempt: 15_000 * (attempt + 1), shell: " ".join([ - f"python {annotation_python_file}", + f"deeprvat_annotations", "get-af-from-gt", "{input.genotype_file}", "{input.variants}", @@ -293,8 +297,7 @@ rule merge_absplice_scores: shell: " ".join( [ - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "merge-abscores", "{input.current_annotation_file}", "{input.absplice_scores}", @@ -312,8 +315,7 @@ rule aggregate_absplice_scores: shell: " ".join( [ - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "aggregate-abscores {input.current_annotation_file}", str(absplice_output_dir / absplice_main_conf['genome'] / 'dna' ), "{output.score_file} {threads}" @@ -331,8 +333,7 @@ rule merge_deepsea_pcas: shell: " ".join( [ - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "merge-deepsea-pcas", "{input.annotations}", "{input.deepsea_pcas}", @@ -355,8 +356,7 @@ rule concat_annotations: shell: " ".join( [ - "python", - str(annotation_python_file), + "deeprvat_annotations", "concat-annotations", '{params.joined}', "{output}" @@ -373,7 +373,7 @@ rule merge_annotations: / (source_variant_file_pattern + "_variants.eclip_k5_deepripe.csv.gz"), deepripe_hg2=anno_dir / (source_variant_file_pattern + "_variants.eclip_hg2_deepripe.csv.gz"), - variant_file=variant_file, + variant_file=variant_pq, vcf_file= anno_tmp_dir / (source_variant_file_pattern + "_variants.vcf"), output: anno_dir / f"{source_variant_file_pattern}_merged.parquet", @@ -382,8 +382,7 @@ rule merge_annotations: ( "HEADER=$(grep -n '#Uploaded_variation' " + "{input.vep}" - + "| head | cut -f 1 -d ':') && python " - + f"{annotation_python_file} " + + "| head | cut -f 1 -d ':') && deeprvat_annotations " + "merge-annotations $(($HEADER-1)) {input.vep} {input.deepripe_parclip} {input.deepripe_hg2} {input.deepripe_k5} {input.variant_file} {input.vcf_file} {output}" ) @@ -398,8 +397,7 @@ rule deepSea_PCA: ["mkdir -p", str(deepSEA_tmp_dir), "&&", - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "deepsea-pca", "{input.deepsea_anno}", f"{str(deepSEA_pca_obj)}", @@ -412,7 +410,7 @@ rule deepSea_PCA: rule add_ids_deepSea: input: - variant_file=variant_file, + variant_file=variant_pq, annotation_file=deepSEA_tmp_dir / "deepsea_pca.parquet", output: directory(anno_dir / "all_variants.wID.deepSea.parquet"), @@ -421,12 +419,10 @@ rule add_ids_deepSea: shell: " ".join( [ - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "add-ids-dask", "{input.annotation_file}", "{input.variant_file}", - "{threads}", "{output}", ] ) @@ -449,8 +445,7 @@ rule concat_deepSea: shell: " ".join( [ - "python", - f"{annotation_python_file}", + "deeprvat_annotations", "concatenate-deepsea", "{params.joined}", "{output}", @@ -484,7 +479,7 @@ rule deepRiPe_parclip: threads: n_jobs_deepripe resources: mem_mb = lambda wildcards, attempt: 5_000 * (attempt + 1), shell: - f"mkdir -p {pybedtools_tmp_path / 'parclip'} && python {annotation_python_file} scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'parclip'} {saved_deepripe_models_path} {{threads}} 'parclip'" + f"mkdir -p {pybedtools_tmp_path / 'parclip'} && deeprvat_annotations scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'parclip'} {saved_deepripe_models_path} {{threads}} 'parclip'" rule deepRiPe_eclip_hg2: @@ -496,7 +491,7 @@ rule deepRiPe_eclip_hg2: threads: lambda wildcards, attempt: n_jobs_deepripe * attempt resources: mem_mb = lambda wildcards, attempt: 5_000 * (attempt + 1), shell: - f"mkdir -p {pybedtools_tmp_path / 'hg2'} && python {annotation_python_file} scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'hg2'} {saved_deepripe_models_path} {{threads}} 'eclip_hg2'" + f"mkdir -p {pybedtools_tmp_path / 'hg2'} && deeprvat_annotations scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'hg2'} {saved_deepripe_models_path} {{threads}} 'eclip_hg2'" rule deepRiPe_eclip_k5: @@ -508,7 +503,7 @@ rule deepRiPe_eclip_k5: threads: lambda wildcards, attempt: n_jobs_deepripe * attempt resources: mem_mb = lambda wildcards, attempt: 5_000 * (attempt + 1), shell: - f"mkdir -p {pybedtools_tmp_path / 'k5'} && python {annotation_python_file} scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'k5'} {saved_deepripe_models_path} {{threads}} 'eclip_k5'" + f"mkdir -p {pybedtools_tmp_path / 'k5'} && deeprvat_annotations scorevariants-deepripe {{input.variants}} {anno_dir} {{input.fasta}} {pybedtools_tmp_path / 'k5'} {saved_deepripe_models_path} {{threads}} 'eclip_k5'" rule vep: @@ -562,7 +557,7 @@ rule vep: "--no_stats", "--per_gene", "--pick_order biotype,mane_select,mane_plus_clinical,canonical,appris,tsl,ccds,rank,length,ensembl,refseq" - ]+['--plugin '+i for i in config['additional_vep_plugin_cmds'].values()] + ]+['--plugin '+i for i in VEP_plugin_cmds] ) diff --git a/pipelines/association_testing/association_dataset.snakefile b/pipelines/association_testing/association_dataset.snakefile index 818e43de..9c8ba228 100644 --- a/pipelines/association_testing/association_dataset.snakefile +++ b/pipelines/association_testing/association_dataset.snakefile @@ -1,5 +1,8 @@ configfile: "config.yaml" +debug_flag = config.get('debug', False) +debug = '--debug ' if debug_flag else '' + rule association_dataset: input: config = '{phenotype}/deeprvat/hpopt_config.yaml' @@ -11,5 +14,6 @@ rule association_dataset: priority: 30 shell: 'deeprvat_associate make-dataset ' + + debug + '{input.config} ' '{output}' diff --git a/pipelines/association_testing_pretrained.snakefile b/pipelines/association_testing_pretrained.snakefile index a26b7f1b..9d7799df 100644 --- a/pipelines/association_testing_pretrained.snakefile +++ b/pipelines/association_testing_pretrained.snakefile @@ -9,7 +9,7 @@ training_phenotypes = config["training"].get("phenotypes", phenotypes) n_burden_chunks = config.get('n_burden_chunks', 1) if not debug_flag else 2 n_regression_chunks = config.get('n_regression_chunks', 40) if not debug_flag else 2 -n_avg_chunks = config.get('n_avg_chunks', 40) +n_avg_chunks = config.get('n_avg_chunks', 1) n_trials = config['hyperparameter_optimization']['n_trials'] n_bags = config['training']['n_bags'] if not debug_flag else 3 n_repeats = config['n_repeats'] diff --git a/pipelines/cv_training/cv_burdens.snakefile b/pipelines/cv_training/cv_burdens.snakefile index 0a6960bc..f618e136 100644 --- a/pipelines/cv_training/cv_burdens.snakefile +++ b/pipelines/cv_training/cv_burdens.snakefile @@ -42,6 +42,10 @@ rule make_deeprvat_test_config: # pass the sample file here # then just use this data set nomrally for burden computation use rule association_dataset from deeprvat_associate as deeprvat_association_dataset with: + input: + config="cv_split{cv_split}/deeprvat/{phenotype}/deeprvat/hpopt_config_test.yaml", + output: + "cv_split{cv_split}/deeprvat/{phenotype}/deeprvat/association_dataset.pkl", threads: 4 @@ -89,31 +93,14 @@ rule combine_test_burdens: ) -use rule link_burdens from deeprvat_associate as deeprvat_link_burdens with: - input: - checkpoints = expand( - 'cv_split{cv_split}/deeprvat' / model_path / "repeat_{repeat}/best/bag_{bag}.ckpt", - cv_split=range(cv_splits), repeat=range(n_repeats), bag=range(n_bags) - ), - dataset = 'cv_split0/deeprvat/{phenotype}/deeprvat/association_dataset.pkl', - data_config = 'cv_split{cv_split}/deeprvat/{phenotype}/deeprvat/hpopt_config_test.yaml', - model_config = "cv_split{cv_split}/deeprvat" / model_path / 'config.yaml', +use rule link_burdens from deeprvat_workflow as deeprvat_link_burdens with: params: prefix="cv_split{cv_split}/deeprvat", -use rule compute_burdens from deeprvat_associate as deeprvat_compute_burdens with: - input: - reversed = "cv_split{cv_split}/deeprvat" / model_path / "reverse_finished.tmp", - checkpoints = expand( - 'cv_split{cv_split}/deeprvat' / model_path / "repeat_{repeat}/best/bag_{bag}.ckpt", - cv_split=range(cv_splits), repeat=range(n_repeats), bag=range(n_bags) - ), - dataset = 'cv_split0/deeprvat/{phenotype}/deeprvat/association_dataset.pkl', - data_config = 'cv_split{cv_split}/deeprvat/{phenotype}/deeprvat/hpopt_config_test.yaml', - model_config = "cv_split{cv_split}/deeprvat" / model_path / 'config.yaml', +use rule compute_burdens from deeprvat_workflow as deeprvat_compute_burdens with: params: prefix="cv_split{cv_split}/deeprvat", -use rule reverse_models from deeprvat_associate as deeprvat_reverse_models +use rule reverse_models from deeprvat_workflow as deeprvat_reverse_models diff --git a/pipelines/cv_training/cv_training.snakefile b/pipelines/cv_training/cv_training.snakefile index 0cd08647..2ad880ae 100644 --- a/pipelines/cv_training/cv_training.snakefile +++ b/pipelines/cv_training/cv_training.snakefile @@ -52,36 +52,18 @@ use rule best_training_run from deeprvat_workflow as deeprvat_best_training_run use rule train from deeprvat_workflow as deeprvat_train with: priority: 1000 - input: - config = expand('cv_split{{cv_split}}/deeprvat/{phenotype}/deeprvat/hpopt_config.yaml', - phenotype=training_phenotypes), - input_tensor = expand('cv_split0/deeprvat/{phenotype}/deeprvat/input_tensor.zarr', - phenotype=training_phenotypes), - covariates = expand('cv_split0/deeprvat/{phenotype}/deeprvat/covariates.zarr', - phenotype=training_phenotypes), - y = expand('cv_split0/deeprvat/{phenotype}/deeprvat/y.zarr', - phenotype=training_phenotypes), - samples = expand('cv_split0/deeprvat/{phenotype}/deeprvat/sample_ids.zarr', - phenotype=training_phenotypes), params: prefix = 'cv_split{cv_split}/deeprvat', phenotypes = " ".join( #TODO like need the prefix here as well [f"--phenotype {p} " - f"cv_split0/deeprvat/{p}/deeprvat/input_tensor.zarr " - f"cv_split0/deeprvat/{p}/deeprvat/covariates.zarr " - f"cv_split0/deeprvat/{p}/deeprvat/y.zarr " - f"cv_split0/deeprvat/{p}/deeprvat/sample_ids.zarr " + f"cv_split{{cv_split}}/deeprvat/{p}/deeprvat/input_tensor.zarr " + f"cv_split{{cv_split}}/deeprvat/{p}/deeprvat/covariates.zarr " + f"cv_split{{cv_split}}/deeprvat/{p}/deeprvat/y.zarr" for p in training_phenotypes]) use rule training_dataset from deeprvat_workflow as deeprvat_training_dataset - # output: - # input_tensor=directory("{phenotype}/deeprvat/input_tensor.zarr"), - # covariates=directory("{phenotype}/deeprvat/covariates.zarr"), - # y=directory("{phenotype}/deeprvat/y.zarr"), - # sample_ids=directory("{phenotype}/deeprvat/sample_ids.zarr"), - -# use rule training_dataset_pickle from deeprvat_workflow as deeprvat_training_dataset_pickle +use rule training_dataset_pickle from deeprvat_workflow as deeprvat_training_dataset_pickle use rule config from deeprvat_workflow as deeprvat_config with: input: @@ -97,4 +79,12 @@ use rule config from deeprvat_workflow as deeprvat_config with: for b in input.baseline ]) if wildcards.phenotype in training_phenotypes else ' ', baseline_out = lambda wildcards: f'--baseline-results-out cv_split{wildcards.cv_split}/deeprvat/{wildcards.phenotype}/deeprvat/baseline_results.parquet' if wildcards.phenotype in training_phenotypes else ' ', - seed_genes_out = lambda wildcards: f'--seed-genes-out cv_split{wildcards.cv_split}/deeprvat/{wildcards.phenotype}/deeprvat/seed_genes.parquet' if wildcards.phenotype in training_phenotypes else ' ' + seed_genes_out = lambda wildcards: f'--seed-genes-out cv_split{wildcards.cv_split}/deeprvat/{wildcards.phenotype}/deeprvat/seed_genes.parquet' if wildcards.phenotype in training_phenotypes else ' ', + association_only = lambda wildcards: f'--association-only' if wildcards.phenotype not in training_phenotypes else ' ' + + + + + + + diff --git a/pipelines/cv_training/cv_training_association_testing.snakefile b/pipelines/cv_training/cv_training_association_testing.snakefile index 14443e83..bb825587 100644 --- a/pipelines/cv_training/cv_training_association_testing.snakefile +++ b/pipelines/cv_training/cv_training_association_testing.snakefile @@ -14,7 +14,7 @@ burden_phenotype = phenotypes[0] n_burden_chunks = config.get("n_burden_chunks", 1) if not debug_flag else 2 n_regression_chunks = config.get("n_regression_chunks", 40) if not debug_flag else 2 -n_avg_chunks = config.get('n_avg_chunks', 40) +n_avg_chunks = config.get('n_avg_chunks', 1) n_trials = config["hyperparameter_optimization"]["n_trials"] n_bags = config["training"]["n_bags"] if not debug_flag else 3 n_repeats = config["n_repeats"] @@ -28,21 +28,26 @@ n_parallel_training_jobs = config["training"].get("n_parallel_jobs", 1) wildcard_constraints: repeat="\d+", trial="\d+", - cv_split="\d+", - phenotype="[A-z0-9_]+", cv_splits = config.get("n_folds", 5) cv_exp = True - - include: "cv_training.snakefile" include: "cv_burdens.snakefile" include: "../association_testing/burdens.snakefile" include: "../association_testing/regress_eval.snakefile" +rule all_evaluate: #regress_eval.snakefile + input: + significant=expand( + "{phenotype}/deeprvat/eval/significant.parquet", phenotype=phenotypes + ), + results=expand( + "{phenotype}/deeprvat/eval/all_results.parquet", phenotype=phenotypes + ), + rule all_regression: #regress_eval.snakefile input: @@ -80,25 +85,6 @@ rule all_training: #cv_training.snakefile cv_split=range(cv_splits), ), -rule all_training_dataset: #cv_training.snakefile - input: - expand( - "cv_split0/deeprvat/{phenotype}/deeprvat/input_tensor.zarr", - phenotype=training_phenotypes, - ), - expand( - "cv_split0/deeprvat/{phenotype}/deeprvat/covariates.zarr", - phenotype=training_phenotypes, - ), - expand( - "cv_split0/deeprvat/{phenotype}/deeprvat/y.zarr", - phenotype=training_phenotypes, - ), - expand( - "cv_split0/deeprvat/{phenotype}/deeprvat/sample_ids.zarr", - phenotype=training_phenotypes, - ), - rule all_config: #cv_training.snakefile input: diff --git a/pipelines/resources/absplice.yaml b/pipelines/resources/absplice.yaml index 08494895..e837f1d8 100755 --- a/pipelines/resources/absplice.yaml +++ b/pipelines/resources/absplice.yaml @@ -29,3 +29,4 @@ dependencies: - interpret == 0.2.7 - interpret-core == 0.2.7 - git+https://github.com/gagneurlab/splicemap.git@9e9831f32c221e850e26757a5f1c132dcd565640 + - git+https://github.com/gagneurlab/absplice.git@e4060e63cca074ac938ea28850a38290c7e8b198 diff --git a/pipelines/resources/absplice_splicing_pred_DNA.snakefile b/pipelines/resources/absplice_splicing_pred_DNA.snakefile index 913780d3..47106018 100644 --- a/pipelines/resources/absplice_splicing_pred_DNA.snakefile +++ b/pipelines/resources/absplice_splicing_pred_DNA.snakefile @@ -119,7 +119,7 @@ rule absplice_dna: params: extra_info = absplice_main_conf['extra_info_dna'] conda: - "absplice" + "absplice" output: absplice_dna = absplice_output_dir / '{genome}' / 'dna' / '{vcf_id}_AbSplice_DNA.csv' script: @@ -127,7 +127,6 @@ rule absplice_dna: rule all_predict_dna: input: - #expand([absplice_output_dir / absplice_main_conf['genome'] / 'dna' / source_variant_file_pattern],zip, chr=chromosomes, block=block) expand([absplice_output_dir / absplice_main_conf['genome'] / 'dna' / '{file_stem}_AbSplice_DNA.csv'],file_stem=file_stems) del splicemap5 diff --git a/pipelines/training/config.snakefile b/pipelines/training/config.snakefile index 93075fff..3799ef7e 100644 --- a/pipelines/training/config.snakefile +++ b/pipelines/training/config.snakefile @@ -33,11 +33,15 @@ rule config: baseline_out=lambda wildcards: f"--baseline-results-out {wildcards.phenotype}/deeprvat/baseline_results.parquet" if wildcards.phenotype in training_phenotypes else " ", + association_only=lambda wildcards: f"--association-only" + if wildcards.phenotype not in training_phenotypes + else " ", shell: ( "deeprvat_config update-config " "--phenotype {wildcards.phenotype} " - "{params.baseline_results}" + "{params.association_only} " + "{params.baseline_results} " "{params.baseline_out} " "{params.seed_genes_out} " "{input.config} " diff --git a/pipelines/training/train.snakefile b/pipelines/training/train.snakefile index 4d8e9cd7..f33fd5b6 100644 --- a/pipelines/training/train.snakefile +++ b/pipelines/training/train.snakefile @@ -51,8 +51,7 @@ rule train: [f"--phenotype {p} " f"{p}/deeprvat/input_tensor.zarr " f"{p}/deeprvat/covariates.zarr " - f"{p}/deeprvat/y.zarr " - f"{p}/deeprvat/sample_ids.zarr " + f"{p}/deeprvat/y.zarr" for p in training_phenotypes]), prefix = '.', priority: 1000 @@ -65,8 +64,7 @@ rule train: + debug + '--trial-id {{2}} ' "{params.phenotypes} " - # 'config.yaml ' - "{params.prefix}/config.yaml " + 'config.yaml ' '{params.prefix}/{model_path}/repeat_{{1}}/trial{{2}} ' "{params.prefix}/{model_path}/repeat_{{1}}/hyperparameter_optimization.db '&&' " "touch {params.prefix}/{model_path}/repeat_{{1}}/trial{{2}}/finished.tmp " diff --git a/pipelines/training/training_dataset.snakefile b/pipelines/training/training_dataset.snakefile index 3c40760b..2cf00229 100644 --- a/pipelines/training/training_dataset.snakefile +++ b/pipelines/training/training_dataset.snakefile @@ -1,16 +1,15 @@ rule training_dataset: input: config="{phenotype}/deeprvat/hpopt_config.yaml", - # training_dataset="{phenotype}/deeprvat/training_dataset.pkl", + training_dataset="{phenotype}/deeprvat/training_dataset.pkl", output: input_tensor=directory("{phenotype}/deeprvat/input_tensor.zarr"), covariates=directory("{phenotype}/deeprvat/covariates.zarr"), y=directory("{phenotype}/deeprvat/y.zarr"), - sample_ids=directory("{phenotype}/deeprvat/sample_ids.zarr"), threads: 8 resources: mem_mb=lambda wildcards, attempt: 32000 + 12000 * attempt, - load=32000, + load=16000, priority: 5000 shell: ( @@ -19,12 +18,11 @@ rule training_dataset: + "--compression-level " + str(tensor_compression_level) + " " - # "--training-dataset-file {input.training_dataset} " + "--training-dataset-file {input.training_dataset} " "{input.config} " "{output.input_tensor} " "{output.covariates} " - "{output.y} " - "{output.sample_ids}" + "{output.y}" ) @@ -32,11 +30,11 @@ rule training_dataset_pickle: input: "{phenotype}/deeprvat/hpopt_config.yaml", output: - temp("{phenotype}/deeprvat/training_dataset.pkl"), + "{phenotype}/deeprvat/training_dataset.pkl", threads: 1 resources: mem_mb=40000, # lambda wildcards, attempt: 38000 + 12000 * attempt - load=40000, + load=16000, shell: ( "deeprvat_train make-dataset " @@ -44,4 +42,4 @@ rule training_dataset_pickle: "--training-dataset-file {output} " "{input} " "dummy dummy dummy" - ) + ) \ No newline at end of file diff --git a/pipelines/training_association_testing.snakefile b/pipelines/training_association_testing.snakefile index 8c360136..b816752e 100644 --- a/pipelines/training_association_testing.snakefile +++ b/pipelines/training_association_testing.snakefile @@ -9,7 +9,7 @@ training_phenotypes = config["training"].get("phenotypes", phenotypes) n_burden_chunks = config.get('n_burden_chunks', 1) if not debug_flag else 2 n_regression_chunks = config.get('n_regression_chunks', 40) if not debug_flag else 2 -n_avg_chunks = config.get('n_avg_chunks', 40) +n_avg_chunks = config.get('n_avg_chunks', 1) n_trials = config['hyperparameter_optimization']['n_trials'] n_bags = config['training']['n_bags'] if not debug_flag else 3 n_repeats = config['n_repeats'] diff --git a/setup.py b/setup.py index 15f5830b..5aa4fa41 100644 --- a/setup.py +++ b/setup.py @@ -29,6 +29,7 @@ "deeprvat_train=deeprvat.deeprvat.train:cli", "deeprvat_associate=deeprvat.deeprvat.associate:cli", "deeprvat_preprocess=deeprvat.preprocessing.preprocess:cli", + "deeprvat_annotations=deeprvat.annotations.annotations:cli", "deeprvat_evaluate=deeprvat.deeprvat.evaluate:evaluate", "seed_gene_pipeline=deeprvat.seed_gene_discovery.seed_gene_discovery:cli", "seed_gene_evaluate=deeprvat.seed_gene_discovery.evaluate:cli", diff --git a/tests/annotations/test_annotations.py b/tests/annotations/test_annotations.py new file mode 100644 index 00000000..4056eed4 --- /dev/null +++ b/tests/annotations/test_annotations.py @@ -0,0 +1,652 @@ +from pathlib import Path + +import pandas as pd +import pytest +from click.testing import CliRunner +from pandas.testing import assert_frame_equal +from deeprvat.annotations.annotations import cli as annotations_cli + +script_dir = Path(__file__).resolve().parent +tests_data_dir = script_dir / "test_data" + + +@pytest.mark.parametrize( + "test_data_name_dir, deepsea_scores_1, deepsea_scores_2, out_scores, expected_out_scores", + [ + ( + "concatenate_deepseascores_small", + "deepsea_scores_1.tsv", + "deepsea_scores_2.tsv", + "out_scores.parquet", + "expected.parquet", + ), + ( + "concatenate_deepseascores_medium", + "deepsea_scores_1.tsv", + "deepsea_scores_2.tsv", + "out_scores.parquet", + "expected.parquet", + ), + ], +) +def test_concatenate_deepsea( + test_data_name_dir, + deepsea_scores_1, + deepsea_scores_2, + out_scores, + expected_out_scores, + tmp_path, +): + cli_runner = CliRunner() + + current_test_data_dir = tests_data_dir / "concatenate_deepsea" / test_data_name_dir + + deepsea_score_file_1 = current_test_data_dir / "input" / deepsea_scores_1 + deepsea_score_file_2 = current_test_data_dir / "input" / deepsea_scores_2 + out_scores_file = tmp_path / out_scores + expected_out_scores_file = current_test_data_dir / "expected" / expected_out_scores + + cli_parameters = [ + "concatenate-deepsea", + ",".join([deepsea_score_file_1.as_posix(), deepsea_score_file_2.as_posix()]), + out_scores_file.as_posix(), + "8", + ] + + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + + written_results = pd.read_parquet(out_scores_file) + + expected_scores = pd.read_parquet(expected_out_scores_file) + assert_frame_equal(written_results, expected_scores, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, deapseascores_file, variant_file, out_df, expected_out_df", + [ + ( + "add_ids_small", + "deepseascores.parquet", + "variants.parquet", + "out_df.parquet", + "expected.parquet", + ), + ( + "add_ids_medium", + "deepseascores.parquet", + "variants.parquet", + "out_df.parquet", + "expected.parquet", + ), + ], +) +def test_add_ids_dask( + test_data_name_dir, + deapseascores_file, + variant_file, + out_df, + expected_out_df, + tmp_path, +): + cli_runner = CliRunner() + + current_test_data_dir = tests_data_dir / "add_ids_dask" / test_data_name_dir + + deepsea_score_file = current_test_data_dir / "input" / deapseascores_file + variant_path = current_test_data_dir / "input" / variant_file + out_scores_file = tmp_path / out_df + expected_out_scores_file = current_test_data_dir / "expected" / expected_out_df + + cli_parameters = [ + "add-ids-dask", + deepsea_score_file.as_posix(), + variant_path.as_posix(), + out_scores_file.as_posix(), + ] + + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + + written_results = pd.read_parquet(out_scores_file) + + expected_scores = pd.read_parquet(expected_out_scores_file) + assert_frame_equal(written_results, expected_scores, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, deapseascores_file, pca_file, mean_sds_file, expected_out_df", + [ + ( + "deepsea_pca_small", + "deepseascores.parquet", + "deepsea_pca/pca.npy", + "deepsea_pca/mean_sds.parquet", + "deepsea_pca.parquet", + ), + ( + "deepsea_pca_small", + "deepseascores.parquet", + "deepsea_pca/pca.npy", + "{tmp_path}/mean_sds.parquet", + "deepsea_pca.parquet", + ), + ( + "deepsea_pca_small", + "deepseascores.parquet", + "{tmp_path}/pca.npy", + "deepsea_pca/mean_sds.parquet", + "deepsea_pca.parquet", + ), + ( + "deepsea_pca_small", + "deepseascores.parquet", + "{tmp_path}/pca.npy", + "{tmp_path}/mean_sds.parquet", + "deepsea_pca.parquet", + ), + ], +) +def test_deepsea_pca( + test_data_name_dir, + deapseascores_file, + pca_file, + mean_sds_file, + expected_out_df, + tmp_path, +): + cli_runner = CliRunner() + + current_test_data_dir = tests_data_dir / "deepsea_pca" / test_data_name_dir + + deepsea_score_file = current_test_data_dir / "input" / deapseascores_file + pca_file = current_test_data_dir / pca_file.format(tmp_path=tmp_path) + mean_sds_file = current_test_data_dir / mean_sds_file.format(tmp_path=tmp_path) + expected_out_scores_file = current_test_data_dir / "expected" / expected_out_df + + cli_parameters = [ + "deepsea-pca", + deepsea_score_file.as_posix(), + pca_file.as_posix(), + mean_sds_file.as_posix(), + tmp_path.as_posix(), + ] + + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + + written_results = pd.read_parquet(tmp_path / expected_out_df) + + expected_scores = pd.read_parquet(expected_out_scores_file) + assert_frame_equal(written_results, expected_scores, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, expected, hg2_output, k5_output, parclip_output, variants, vcf, vep_output, vep_header_line", + [ + ( + "merge_annotations_small", + "merged_annotations_expected.parquet", + "test_hg2_deepripe.csv.gz", + "test_k5_deepripe.csv.gz", + "test_parclip.csv.gz", + "variants.parquet", + "test.vcf", + "test_vep.tsv", + "49", + ), + ( + "merge_annotations_mixedIDs", + "merged_annotations_expected.parquet", + "test_hg2_deepripe.csv.gz", + "test_k5_deepripe.csv.gz", + "test_parclip.csv.gz", + "variants.parquet", + "test.vcf", + "test_vep.tsv", + "49", + ), + ], +) +def test_merge_annotations( + test_data_name_dir, + expected, + hg2_output, + k5_output, + parclip_output, + variants, + vcf, + vep_output, + vep_header_line, + tmp_path, +): + current_test_data_dir = tests_data_dir / "merge_annotations" / test_data_name_dir + expected_path = current_test_data_dir / "expected" / expected + hg2_deepripe_path = current_test_data_dir / "input" / hg2_output + k5_deepripe_path = current_test_data_dir / "input" / k5_output + parclip_deepripe_path = current_test_data_dir / "input" / parclip_output + vcf_path = current_test_data_dir / "input" / vcf + vep_output_path = current_test_data_dir / "input" / vep_output + variants_path = current_test_data_dir / "input" / variants + output_path = tmp_path / "out_merged.parquet" + cli_runner = CliRunner() + + cli_parameters = [ + "merge-annotations", + vep_header_line, + vep_output_path.as_posix(), + parclip_deepripe_path.as_posix(), + hg2_deepripe_path.as_posix(), + k5_deepripe_path.as_posix(), + variants_path.as_posix(), + vcf_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results[expected_results.columns], expected_results, check_exact=False + ) + + +@pytest.mark.parametrize( + "test_data_name_dir, expected, merged_files", + [ + ( + "concatenate_annotations_small", + "expected.parquet", + "chr3test_merged.parquet,chr4test_merged.parquet", + ), + ], +) +def test_concatenate_annotations(test_data_name_dir, expected, merged_files, tmp_path): + current_test_data_dir = ( + tests_data_dir / "concatenate_annotations" / test_data_name_dir + ) + expected_path = current_test_data_dir / "expected" / expected + merged_files = [ + (current_test_data_dir / "input" / file).as_posix() + for file in merged_files.split(",") + ] + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + + cli_parameters = [ + "concat-annotations", + ",".join(merged_files), + output_path.as_posix(), + ] + + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results[expected_results.columns], expected_results, check_exact=False + ) + + +@pytest.mark.parametrize( + "test_data_name_dir, annotations, deepSEA_scores, annotation_columns_yaml_file, expected", + [ + ( + "merge_deepsea_pcas_small", + "vep_deepripe.parquet", + "all_variants.wID.deepSea.parquet", + "annotation_colnames_filling_values.yaml", + "expected.parquet", + ), + ], +) +def test_merge_deepsea_pcas( + test_data_name_dir, + annotations, + deepSEA_scores, + annotation_columns_yaml_file, + expected, + tmp_path, +): + current_test_data_dir = tests_data_dir / "merge_deepsea_pcas" / test_data_name_dir + expected_path = current_test_data_dir / "expected" / expected + annotations_path = current_test_data_dir / "input" / annotations + deepSEA_scores_path = current_test_data_dir / "input" / deepSEA_scores + annotation_columns_yaml_path = ( + current_test_data_dir / "input" / annotation_columns_yaml_file + ) + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "merge-deepsea-pcas", + annotations_path.as_posix(), + deepSEA_scores_path.as_posix(), + annotation_columns_yaml_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results, expected_results[written_results.columns], check_exact=False + ) + + +@pytest.mark.parametrize( + "test_data_name_dir, annotations, abSplice_score_dir, njobs, expected", + [ + ( + "aggregate_absplice_scores_small", + "vep_deepripe_deepsea.parquet", + "absplice_res_dir", + "8", + "abSplice_score_file.parquet", + ), + ], +) +def test_aggregate_abscores( + test_data_name_dir, annotations, abSplice_score_dir, njobs, expected, tmp_path +): + current_test_data_dir = ( + tests_data_dir / "aggregate_absplice_scores" / test_data_name_dir + ) + annotations_path = current_test_data_dir / "input" / annotations + abscore_path = current_test_data_dir / "input" / abSplice_score_dir + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "aggregate-abscores", + annotations_path.as_posix(), + abscore_path.as_posix(), + output_path.as_posix(), + njobs, + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results, expected_results[written_results.columns], check_exact=False + ) + + +@pytest.mark.parametrize( + "test_name_dir, absplice_scores, annotations, expected", + [ + ( + "merge_absplice_scores_small", + "abSplice_score_file.parquet", + "vep_deepripe_deepsea.parquet", + "vep_deepripe_deepsea_absplice.parquet", + ), + ], +) +def test_merge_absplice_scores( + test_name_dir, absplice_scores, annotations, expected, tmp_path +): + current_test_data_dir = tests_data_dir / "merge_absplice_scores" / test_name_dir + absplice_score_path = current_test_data_dir / "input" / absplice_scores + annotation_path = current_test_data_dir / "input" / annotations + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "merge-abscores", + annotation_path.as_posix(), + absplice_score_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, genotype_file, variant_file, expected", + [ + ( + "calculate_allele_frequency_small", + "genotypes.h5", + "variants.parquet", + "af_df.parquet", + ), + ], +) +def test_calculate_allele_frequencies( + test_data_name_dir, genotype_file, variant_file, expected, tmp_path +): + current_test_data_dir = ( + tests_data_dir / "calculate_allele_frequency" / test_data_name_dir + ) + genotype_filepath = current_test_data_dir / "input" / genotype_file + variant_filepath = current_test_data_dir / "input" / variant_file + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "get-af-from-gt", + genotype_filepath.as_posix(), + variant_filepath.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, af_df, annotaton_df, expected", + [ + ( + "merge_af_small", + "af_df.parquet", + "vep_deepripe_deepsea_absplice.parquet", + "vep_deepripe_deepsea_absplice_af.parquet", + ), + ], +) +def test_merge_af(test_data_name_dir, af_df, annotaton_df, expected, tmp_path): + current_test_data_dir = tests_data_dir / "merge_af" / test_data_name_dir + af_path = current_test_data_dir / "input" / af_df + annotaions_path = current_test_data_dir / "input" / annotaton_df + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "merge-af", + af_path.as_posix(), + annotaions_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results, expected_results[written_results.columns], check_exact=False + ) + + +@pytest.mark.parametrize( + "test_data_name_dir, annotations, expected", + [ + ( + "calculate_MAF_small", + "annotations.parquet", + "expected.parquet", + ), + ], +) +def test_calculate_maf(test_data_name_dir, annotations, expected, tmp_path): + current_test_data_dir = tests_data_dir / "calculate_MAF" / test_data_name_dir + annotations_path = current_test_data_dir / "input" / annotations + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "calculate-maf", + annotations_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, gtf_file, expected", + [ + ( + "create_gene_id_file_small", + "gencode.v44.annotation.gtf.gz", + "protein_coding_genes.parquet", + ), + ], +) +def test_create_gene_id_file(test_data_name_dir, gtf_file, expected, tmp_path): + current_test_data_dir = tests_data_dir / "create_gene_id_file" / test_data_name_dir + input_path1 = current_test_data_dir / "input" / gtf_file + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "create-gene-id-file", + input_path1.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results, expected_results[written_results.columns], check_exact=False + ) + + +@pytest.mark.parametrize( + "test_data_name_dir, annotations, gene_id_file , expected", + [ + ( + "add_gene_ids_small", + "annotations.parquet", + "protein_coding_genes.parquet", + "expected.parquet", + ), + ], +) +def test_add_gene_ids( + test_data_name_dir, annotations, gene_id_file, expected, tmp_path +): + current_test_data_dir = tests_data_dir / "add_gene_ids" / test_data_name_dir + annotations_path = current_test_data_dir / "input" / annotations + gene_id_path = current_test_data_dir / "input" / gene_id_file + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "add-gene-ids", + gene_id_path.as_posix(), + annotations_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, gtf_file, annotations, gene_id_file, expected", + [ + ( + "filter_by_exon_distance_small", + "gencode.v44.annotation.gtf.gz", + "annotations.parquet", + "protein_coding_genes.parquet", + "expected.parquet", + ), + ], +) +def test_filter_by_exon_distance( + test_data_name_dir, gtf_file, annotations, gene_id_file, expected, tmp_path +): + current_test_data_dir = ( + tests_data_dir / "filter_by_exon_distance" / test_data_name_dir + ) + gtf_file_path = current_test_data_dir / "input" / gtf_file + annotations_path = current_test_data_dir / "input" / annotations + gene_id_path = current_test_data_dir / "input" / gene_id_file + + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "filter-annotations-by-exon-distance", + annotations_path.as_posix(), + gtf_file_path.as_posix(), + gene_id_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results, check_exact=False) + + +@pytest.mark.parametrize( + "test_data_name_dir, yaml_file, annotations, expected", + [ + ( + "select_rename_fill_columns_small", + "annotation_colnames_filling_values.yaml", + "annotations.parquet", + "expected.parquet", + ), + ], +) +def test_select_rename_fill_annotations( + test_data_name_dir, yaml_file, annotations, expected, tmp_path +): + current_test_data_dir = ( + tests_data_dir / "select_rename_fill_columns" / test_data_name_dir + ) + yaml_file_path = current_test_data_dir / "input" / yaml_file + annotations_path = current_test_data_dir / "input" / annotations + expected_path = current_test_data_dir / "expected" / expected + output_path = tmp_path / "out.parquet" + cli_runner = CliRunner() + cli_parameters = [ + "select-rename-fill-annotations", + yaml_file_path.as_posix(), + annotations_path.as_posix(), + output_path.as_posix(), + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal( + written_results, expected_results[written_results.columns], check_exact=False + ) diff --git a/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/expected/expected.parquet b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/expected/expected.parquet new file mode 100644 index 00000000..cf3bad1a Binary files /dev/null and b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/expected/expected.parquet differ diff --git a/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/annotations.parquet b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/annotations.parquet new file mode 100644 index 00000000..33835b07 Binary files /dev/null and b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/annotations.parquet differ diff --git a/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/protein_coding_genes.parquet b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/protein_coding_genes.parquet new file mode 100644 index 00000000..b693bbc4 Binary files /dev/null and b/tests/annotations/test_data/add_gene_ids/add_gene_ids_small/input/protein_coding_genes.parquet differ diff --git a/tests/annotations/test_data/add_ids_dask/add_ids_medium/expected/expected.parquet b/tests/annotations/test_data/add_ids_dask/add_ids_medium/expected/expected.parquet new file mode 100644 index 00000000..ba7ffd78 Binary files /dev/null and b/tests/annotations/test_data/add_ids_dask/add_ids_medium/expected/expected.parquet differ diff --git a/tests/annotations/test_data/add_ids_dask/add_ids_medium/input/deepseascores.parquet b/tests/annotations/test_data/add_ids_dask/add_ids_medium/input/deepseascores.parquet new file mode 100644 index 00000000..b022b25e Binary files /dev/null and b/tests/annotations/test_data/add_ids_dask/add_ids_medium/input/deepseascores.parquet differ diff --git a/tests/annotations/test_data/add_ids_dask/add_ids_medium/input/variants.parquet b/tests/annotations/test_data/add_ids_dask/add_ids_medium/input/variants.parquet new file mode 100644 index 00000000..35d9aaf3 Binary files /dev/null and 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files /dev/null and b/tests/annotations/test_data/add_ids_dask/add_ids_small/input/variants.parquet differ diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet new file mode 100644 index 00000000..2cef8024 Binary files /dev/null and b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet differ diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv new file mode 100644 index 00000000..60f5e03a --- /dev/null +++ b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv @@ -0,0 +1,193 @@ +variant,gene_id,tissue,delta_logit_psi,delta_psi,delta_score,splice_site_is_expressed,AbSplice_DNA +chr3:13336897:T>A,ENSG00000132182,Adrenal_Gland,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Pituitary,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Mucosa,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Kidney_Cortex,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Liver,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Lung,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Minor_Salivary_Gland,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Pancreas,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Prostate,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Cells_EBV_transformed_lymphocytes,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Small_Intestine_Terminal_Ileum,0.1271947632745491,0.0013409990441992,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Spleen,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Stomach,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Testis,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Thyroid,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Colon_Transverse,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Whole_Blood,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cortex,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Nucleus_accumbens_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Hypothalamus,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Caudate_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cerebellar_Hemisphere,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cerebellum,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Breast_Mammary_Tissue,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Vagina,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Uterus,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Aorta,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Coronary,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Tibial,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Amygdala,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Anterior_cingulate_cortex_BA24,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Skin_Sun_Exposed_Lower_leg,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Skin_Not_Sun_Exposed_Suprapubic,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Ovary,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Substantia_nigra,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Nerve_Tibial,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Muscle_Skeletal,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Frontal_Cortex_BA9,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Hippocampus,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Heart_Left_Ventricle,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Heart_Atrial_Appendage,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Adipose_Visceral_Omentum,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Putamen_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Gastroesophageal_Junction,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Spinal_cord_cervical_c_1,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Colon_Sigmoid,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Muscularis,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Liver,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Lung,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Ovary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Prostate,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Spleen,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Stomach,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Testis,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Uterus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Vagina,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Adipose_Subcutaneous,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Liver,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Lung,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Ovary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Prostate,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Spleen,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Stomach,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Testis,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Uterus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Vagina,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Liver,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Lung,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Ovary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Prostate,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Spleen,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Stomach,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Testis,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Uterus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Vagina,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Whole_Blood,,,0.0,0,0.0005700424787606313 diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv new file mode 100644 index 00000000..db7d0c74 --- /dev/null +++ b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv @@ -0,0 +1,246 @@ +variant,gene_id,tissue,delta_logit_psi,delta_psi,delta_score,splice_site_is_expressed,AbSplice_DNA +chr4:169007628:T>C,ENSG00000145439,Brain_Cerebellar_Hemisphere,-0.2924805955494345,-0.0588679816775568,0.05,1,0.006833637741834292 +chr4:169007628:T>C,ENSG00000145439,Brain_Cerebellum,-0.2924805955494345,-0.0573214450667628,0.05,1,0.006833637741834292 +chr4:169007628:T>C,ENSG00000145439,Brain_Substantia_nigra,-0.2924805955494345,-0.0566263142416471,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Nucleus_accumbens_basal_ganglia,-0.2924805955494345,-0.0542171459327623,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Hypothalamus,-0.2924805955494345,-0.0537109292025781,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Hippocampus,-0.2924805955494345,-0.0513790826672216,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Frontal_Cortex_BA9,-0.2924805955494345,-0.0539980667521867,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Cortex,-0.2924805955494345,-0.0520890438905559,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Putamen_basal_ganglia,-0.2924805955494345,-0.0551813984735419,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Caudate_basal_ganglia,-0.2924805955494345,-0.052206396676825,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Anterior_cingulate_cortex_BA24,-0.2924805955494345,-0.0537744175754923,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Amygdala,-0.2924805955494345,-0.0538417662920955,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Ovary,-0.2924805955494345,-0.0453503859773065,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Spinal_cord_cervical_c_1,-0.2924805955494345,-0.0510839631880544,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Pituitary,-0.2924805955494345,-0.0341719319284121,0.05,1,0.005140125524902324 +chr4:169007628:T>C,ENSG00000145439,Nerve_Tibial,-0.2924805955494345,-0.0339228709569385,0.05,1,0.004484302690380517 +chr4:169007628:T>C,ENSG00000145439,Thyroid,-0.2924805955494345,-0.0328589953455117,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Uterus,-0.2924805955494345,-0.0310821996594723,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Artery_Tibial,-0.2924805955494345,-0.0287037168558088,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Artery_Aorta,-0.2924805955494345,-0.0303005879830458,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Esophagus_Gastroesophageal_Junction,-0.2924805955494345,-0.0280732952512678,0.05,1,0.0043930876001134845 +chr4:169007628:T>C,ENSG00000145439,Kidney_Cortex,-0.2924805955494345,-0.0267086965806592,0.05,1,0.0043930876001134845 +chr4:169007628:T>C,ENSG00000145439,Artery_Coronary,-0.2924805955494345,-0.0273913899791004,0.05,1,0.0043930876001134845 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+chr4:169007628:T>C,ENSG00000145439,Skin_Not_Sun_Exposed_Suprapubic,-0.2924805955494345,-0.019492169216431,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Skin_Sun_Exposed_Lower_leg,-0.2924805955494345,-0.0200246209787826,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Small_Intestine_Terminal_Ileum,-0.2924805955494345,-0.0164571845860465,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Spleen,-0.2924805955494345,-0.0185292383145769,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Stomach,-0.2924805955494345,-0.019371217400388,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Liver,-0.2924805955494345,-0.0151578033921386,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Adrenal_Gland,-0.2924805955494345,-0.0178600541748558,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Heart_Left_Ventricle,-0.2924805955494345,-0.0148995068950208,0.05,1,0.0030678102944556164 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+chr4:86734352:C>T,ENSG00000163629,Skin_Not_Sun_Exposed_Suprapubic,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Adipose_Visceral_Omentum,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Adipose_Subcutaneous,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:122258831:A>T,ENSG00000138688,Adipose_Visceral_Omentum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Tibial,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Frontal_Cortex_BA9,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cortex,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cerebellum,-0.0024281248594303,-3.241125210099068e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cerebellar_Hemisphere,-0.0024281248594303,-2.7290232610815285e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Caudate_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Anterior_cingulate_cortex_BA24,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Amygdala,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Coronary,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Hippocampus,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Aorta,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Adipose_Visceral_Omentum,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Adipose_Subcutaneous,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Putamen_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Breast_Mammary_Tissue,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Cells_Cultured_fibroblasts,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Muscularis,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Lung,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Prostate,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Nucleus_accumbens_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Adipose_Subcutaneous,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Muscularis,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Brain_Cerebellum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Cells_EBV_transformed_lymphocytes,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Vagina,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Uterus,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Colon_Sigmoid,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Thyroid,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Testis,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Breast_Mammary_Tissue,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Cells_Cultured_fibroblasts,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Small_Intestine_Terminal_Ileum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Skin_Sun_Exposed_Lower_leg,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Brain_Cortex,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Skin_Not_Sun_Exposed_Suprapubic,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Gastroesophageal_Junction,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Pituitary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Ovary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Nerve_Tibial,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Minor_Salivary_Gland,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Lung,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Tibial,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Coronary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Aorta,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Adrenal_Gland,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:86734352:C>T,ENSG00000163629,Brain_Cerebellum,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Nucleus_accumbens_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Hypothalamus,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Hippocampus,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Cortex,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Artery_Aorta,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Cerebellar_Hemisphere,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Caudate_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Anterior_cingulate_cortex_BA24,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Amygdala,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Spinal_cord_cervical_c_1,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Adrenal_Gland,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Putamen_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Frontal_Cortex_BA9,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Substantia_nigra,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Esophagus_Muscularis,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Small_Intestine_Terminal_Ileum,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Stomach,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Pancreas,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Lung,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Heart_Left_Ventricle,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Heart_Atrial_Appendage,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Minor_Salivary_Gland,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Spleen,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Colon_Sigmoid,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Colon_Transverse,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Esophagus_Gastroesophageal_Junction,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:77035112:G>A,ENSG00000138758,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Thyroid,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Amygdala,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Testis,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Stomach,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Spleen,-0.0024281248594303,-2.644437717536606e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Mucosa,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Pituitary,-0.0024281248594303,-6.753186395330388e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Uterus,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Pancreas,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Ovary,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Small_Intestine_Terminal_Ileum,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Caudate_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Vagina,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Nucleus_accumbens_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Liver,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Substantia_nigra,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Spinal_cord_cervical_c_1,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Putamen_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Liver,,,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Hypothalamus,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Hippocampus,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Colon_Transverse,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Frontal_Cortex_BA9,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Cerebellar_Hemisphere,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Anterior_cingulate_cortex_BA24,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Thyroid,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Kidney_Cortex,-0.0024281248594303,-4.652301549626717e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Cells_Cultured_fibroblasts,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Liver,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Lung,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Vagina,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Testis,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Stomach,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Spleen,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Prostate,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Pituitary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Pancreas,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Ovary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Heart_Left_Ventricle,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Muscle_Skeletal,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Hypothalamus,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Liver,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Substantia_nigra,-0.0024281248594303,-3.182189889891322e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Kidney_Cortex,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Cells_EBV_transformed_lymphocytes,-0.0024281248594303,-0.0002068757826844,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Colon_Transverse,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Uterus,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Heart_Atrial_Appendage,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Pancreas,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Prostate,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Spleen,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Whole_Blood,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Stomach,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:169007628:T>C,ENSG00000145439,Whole_Blood,-0.2924805955494345,-0.0136947033424804,0.05,0,0.0005001247511210176 diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/vep_deepripe_deepsea.parquet b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/vep_deepripe_deepsea.parquet new file mode 100644 index 00000000..675c2332 Binary files /dev/null and b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/vep_deepripe_deepsea.parquet differ diff --git 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DeepSEA/predict/A549_USF-1_DEX_100nM/diff DeepSEA/predict/A549_USF-1_EtOH_0.02pct/diff DeepSEA/predict/A549_USF-1_EtOH_0.02pct/diff DeepSEA/predict/A549_YY1_EtOH_0.02pct/diff DeepSEA/predict/A549_ZBTB33_EtOH_0.02pct/diff DeepSEA/predict/ECC-1_CTCF_DMSO_0.02pct/diff DeepSEA/predict/ECC-1_ERalpha_BPA_100nM/diff DeepSEA/predict/ECC-1_ERalpha_Estradiol_10nM/diff DeepSEA/predict/ECC-1_ERalpha_Genistein_100nM/diff DeepSEA/predict/ECC-1_FOXA1_DMSO_0.02pct/diff DeepSEA/predict/ECC-1_GR_DEX_100nM/diff DeepSEA/predict/ECC-1_Pol2_DMSO_0.02pct/diff DeepSEA/predict/GM12878_ATF2_None/diff DeepSEA/predict/GM12878_ATF3_None/diff DeepSEA/predict/GM12878_BATF_None/diff DeepSEA/predict/GM12878_BCL11A_None/diff DeepSEA/predict/GM12878_BCL3_None/diff DeepSEA/predict/GM12878_BCLAF1_None/diff DeepSEA/predict/GM12878_CEBPB_None/diff DeepSEA/predict/GM12878_EBF1_None/diff DeepSEA/predict/GM12878_Egr-1_None/diff DeepSEA/predict/GM12878_ELF1_None/diff DeepSEA/predict/GM12878_ETS1_None/diff 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DeepSEA/predict/NHEK_Pol2(b)_None/diff DeepSEA/predict/NHLF_CTCF_None/diff DeepSEA/predict/NHLF_EZH2_None/diff DeepSEA/predict/Osteobl_CTCF_None/diff DeepSEA/predict/A549_ATF3_EtOH_0.02pct/diff DeepSEA/predict/A549_BCL3_EtOH_0.02pct/diff DeepSEA/predict/A549_CREB1_DEX_100nM/diff DeepSEA/predict/A549_CTCF_DEX_100nM/diff DeepSEA/predict/A549_CTCF_EtOH_0.02pct/diff DeepSEA/predict/A549_ELF1_EtOH_0.02pct/diff DeepSEA/predict/A549_ETS1_EtOH_0.02pct/diff DeepSEA/predict/A549_FOSL2_EtOH_0.02pct/diff DeepSEA/predict/A549_FOXA1_DEX_100nM/diff DeepSEA/predict/A549_GABP_EtOH_0.02pct/diff DeepSEA/predict/A549_GR_DEX_500pM/diff DeepSEA/predict/A549_GR_DEX_50nM/diff DeepSEA/predict/A549_GR_DEX_5nM/diff DeepSEA/predict/A549_GR_DEX_100nM/diff DeepSEA/predict/A549_NRSF_EtOH_0.02pct/diff DeepSEA/predict/A549_p300_EtOH_0.02pct/diff DeepSEA/predict/A549_Pol2_DEX_100nM/diff DeepSEA/predict/A549_Pol2_EtOH_0.02pct/diff DeepSEA/predict/A549_Sin3Ak-20_EtOH_0.02pct/diff DeepSEA/predict/A549_SIX5_EtOH_0.02pct/diff DeepSEA/predict/A549_TAF1_EtOH_0.02pct/diff DeepSEA/predict/A549_TCF12_EtOH_0.02pct/diff DeepSEA/predict/A549_USF-1_DEX_100nM/diff DeepSEA/predict/A549_USF-1_EtOH_0.02pct/diff DeepSEA/predict/A549_USF-1_EtOH_0.02pct/diff DeepSEA/predict/A549_YY1_EtOH_0.02pct/diff DeepSEA/predict/A549_ZBTB33_EtOH_0.02pct/diff DeepSEA/predict/ECC-1_CTCF_DMSO_0.02pct/diff DeepSEA/predict/ECC-1_ERalpha_BPA_100nM/diff DeepSEA/predict/ECC-1_ERalpha_Estradiol_10nM/diff DeepSEA/predict/ECC-1_ERalpha_Genistein_100nM/diff DeepSEA/predict/ECC-1_FOXA1_DMSO_0.02pct/diff DeepSEA/predict/ECC-1_GR_DEX_100nM/diff DeepSEA/predict/ECC-1_Pol2_DMSO_0.02pct/diff DeepSEA/predict/GM12878_ATF2_None/diff DeepSEA/predict/GM12878_ATF3_None/diff DeepSEA/predict/GM12878_BATF_None/diff DeepSEA/predict/GM12878_BCL11A_None/diff DeepSEA/predict/GM12878_BCL3_None/diff DeepSEA/predict/GM12878_BCLAF1_None/diff DeepSEA/predict/GM12878_CEBPB_None/diff DeepSEA/predict/GM12878_EBF1_None/diff 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a/tests/annotations/test_data/concatenate_deepsea/concatenate_deepseascores_small/input/deepsea_scores_2.tsv b/tests/annotations/test_data/concatenate_deepsea/concatenate_deepseascores_small/input/deepsea_scores_2.tsv new file mode 100644 index 00000000..3461df97 --- /dev/null +++ b/tests/annotations/test_data/concatenate_deepsea/concatenate_deepseascores_small/input/deepsea_scores_2.tsv @@ -0,0 +1,9 @@ +#CHROM POS ID REF ALT DeepSEA/predict/8988T_DNase_None/diff DeepSEA/predict/AoSMC_DNase_None/diff DeepSEA/predict/Chorion_DNase_None/diff DeepSEA/predict/CLL_DNase_None/diff DeepSEA/predict/Fibrobl_DNase_None/diff DeepSEA/predict/FibroP_DNase_None/diff DeepSEA/predict/Gliobla_DNase_None/diff DeepSEA/predict/GM12891_DNase_None/diff DeepSEA/predict/GM12892_DNase_None/diff DeepSEA/predict/GM18507_DNase_None/diff DeepSEA/predict/GM19238_DNase_None/diff DeepSEA/predict/GM19239_DNase_None/diff DeepSEA/predict/GM19240_DNase_None/diff DeepSEA/predict/H9ES_DNase_None/diff 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DeepSEA/predict/Adult_CD4_Th0_DNase_None/diff DeepSEA/predict/Urothelia_DNase_None/diff DeepSEA/predict/Urothelia_DNase_UT189/diff DeepSEA/predict/AG04449_DNase_None/diff DeepSEA/predict/AG04450_DNase_None/diff DeepSEA/predict/AG09309_DNase_None/diff DeepSEA/predict/AG09319_DNase_None/diff DeepSEA/predict/AG10803_DNase_None/diff DeepSEA/predict/AoAF_DNase_None/diff DeepSEA/predict/BE2_C_DNase_None/diff DeepSEA/predict/BJ_DNase_None/diff DeepSEA/predict/Caco-2_DNase_None/diff DeepSEA/predict/CD20+_DNase_None/diff DeepSEA/predict/CD34+_Mobilized_DNase_None/diff DeepSEA/predict/CMK_DNase_None/diff DeepSEA/predict/A549_DNase_None/diff DeepSEA/predict/GM12878_DNase_None/diff DeepSEA/predict/H1-hESC_DNase_None/diff DeepSEA/predict/HeLa-S3_DNase_None/diff DeepSEA/predict/HepG2_DNase_None/diff DeepSEA/predict/HMEC_DNase_None/diff DeepSEA/predict/HSMMtube_DNase_None/diff DeepSEA/predict/HSMM_DNase_None/diff DeepSEA/predict/HUVEC_DNase_None/diff DeepSEA/predict/K562_DNase_None/diff 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/dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/expected/merged_annotations_expected.parquet differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test.vcf b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test.vcf new file mode 100644 index 00000000..91b7a2e8 --- /dev/null +++ b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test.vcf @@ -0,0 +1,60 @@ +chr3 3474106 . C T +chr3 6134790 rs881 A G +chr3 6492413 . A G +chr3 7479092 . T A +chr3 10151779 . G T +chr3 10963200 . C A +chr3 13336897 rs178 T A +chr3 25565017 rs37 C G +chr3 28027872 rs721 T C +chr3 30429305 rs135 T C +chr3 39059372 rs23 A C +chr3 47378509 rs727 T A +chr3 47839379 rs268 C T +chr3 55062103 rs873 A G +chr3 56288165 rs664 G C +chr3 64813843 rs815 A G +chr3 70306576 rs107 C G +chr3 72140079 rs492 A T +chr3 72906610 rs930 T G +chr3 74562325 rs523 G T +chr3 78839934 rs583 G A +chr3 81414874 rs170 A T +chr3 97458263 rs548 A T +chr3 97649369 rs546 C G +chr3 97949211 rs543 G A +chr3 99075824 rs838 T C +chr3 101580812 rs311 A C +chr3 103151123 rs382 C A +chr3 103329532 rs179 T C +chr3 103928516 rs19 A T +chr3 105180981 rs341 A G +chr3 111113126 rs470 A G +chr3 111866541 rs467 T A +chr3 117455785 rs718 C A +chr3 120258434 rs506 A C +chr3 120364684 rs367 T G +chr3 122803142 rs488 A C +chr3 125013245 rs146 A G +chr3 127342540 rs318 G T +chr3 133734681 rs104 G A +chr3 139349025 rs665 T C +chr3 140275153 rs791 G C +chr3 145304395 rs102 C G +chr3 147901161 rs274 C T +chr3 150051584 rs123 C A +chr3 150399452 rs648 T A +chr3 158349305 rs748 T A +chr3 158851780 rs408 A T +chr3 160382108 rs963 A C +chr3 168465216 rs751 G C +chr3 171089322 rs197 A T +chr3 177499702 rs376 G C +chr3 185836100 rs581 G T +chr3 191856146 rs596 G C +chr3 192824921 rs701 C G +chr3 193390684 rs434 A C +chr3 194577309 rs70 T G +chr3 194762766 rs598 G A +chr3 197345633 rs356 T A +chr3 197732094 rs693 G T diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test_hg2_deepripe.csv.gz b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test_hg2_deepripe.csv.gz new file mode 100644 index 00000000..69a44862 Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test_hg2_deepripe.csv.gz differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test_k5_deepripe.csv.gz 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b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/test_vep.tsv @@ -0,0 +1,122 @@ +## ENSEMBL VARIANT EFFECT PREDICTOR v110.1 +## Output produced at 2024-04-24 15:05:38 +## Using cache in repo_dir/ensembl-vep/cache/homo_sapiens/110_GRCh38 +## Using API version 110, DB version ? +## ensembl-variation version 110.d34d25e +## ensembl-io version 110.b1a0d57 +## ensembl version 110.584a8f3 +## ensembl-funcgen version 110.24e6da6 +## dbSNP version 154 +## 1000genomes version phase3 +## gencode version GENCODE 44 +## polyphen version 2.2.3 +## sift version 6.2.1 +## gnomADe version r2.1.1 +## ClinVar version 202301 +## HGMD-PUBLIC version 20204 +## assembly version GRCh38.p14 +## COSMIC version 97 +## regbuild version 1.0 +## gnomADg version v3.1.2 +## genebuild version 2014-07 +## Column descriptions: +## Uploaded_variation : Identifier of uploaded variant +## Location : Location of variant in standard coordinate format (chr:start or chr:start-end) +## Allele : The variant allele used to calculate the consequence +## Gene : Stable ID of affected gene +## Feature : Stable ID of feature +## Feature_type : Type of feature - Transcript, RegulatoryFeature or MotifFeature +## Consequence : Consequence type +## cDNA_position : Relative position of base pair in cDNA sequence +## CDS_position : Relative position of base pair in coding sequence +## Protein_position : Relative position of amino acid in protein +## Amino_acids : Reference and variant amino acids +## Codons : Reference and variant codon sequence +## Existing_variation : Identifier(s) of co-located known variants +## IMPACT : Subjective impact classification of consequence type +## DISTANCE : Shortest distance from variant to transcript +## STRAND : Strand of the feature (1/-1) +## FLAGS : Transcript quality flags +## BIOTYPE : Biotype of transcript or regulatory feature +## CANONICAL : Indicates if transcript is canonical for this gene +## ENSP : Protein identifer +## SIFT : SIFT prediction and/or score +## PolyPhen : PolyPhen prediction and/or score +## AF : Frequency of existing variant in 1000 Genomes combined population +## CLIN_SIG : ClinVar clinical significance of the dbSNP variant +## SOMATIC : Somatic status of existing variant +## PHENO : Indicates if existing variant(s) is associated with a phenotype, disease or trait; multiple values correspond to multiple variants +## VEP command-line: vep --af --assembly GRCh38 --biotype --cache --canonical --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/Plugins --fasta [PATH]/GRCh38.primary_assembly.genome.fa --force_overwrite --fork 5 --format vcf --input_file [PATH]/chr3test_stripped.vcf.gz --no_escape --no_stats --offline --output_file [PATH]/chr3test_vep_anno.tsv --per_gene --pick_order biotype,mane_select,mane_plus_clinical,canonical,appris,tsl,ccds,rank,length,ensembl,refseq --polyphen s --protein --sift s --tab --total_length +#Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation IMPACT DISTANCE STRAND FLAGS BIOTYPE CANONICAL ENSP SIFT PolyPhen AF CLIN_SIG SOMATIC PHENO +3_3474106_C/T 3:3474106 T ENSG00000223727 ENST00000420000 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs881 3:6134790 G - - - intergenic_variant - - - - - rs1007430246 MODIFIER - - - - - - - - - - - - +3_6492413_A/G 3:6492413 G ENSG00000189229 ENST00000655754 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +3_7479092_T/A 3:7479092 A ENSG00000196277 ENST00000357716 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000350348 - - - - - - +3_10151779_G/T 3:10151779 T ENSG00000287086 ENST00000660063 Transcript intron_variant,non_coding_transcript_variant - - - - - COSV56556349 MODIFIER - -1 - lncRNA YES - - - - - 1 1 +3_10151779_G/T 3:10151779 T ENSG00000134086 ENST00000256474 Transcript 3_prime_UTR_variant 2526/4414 - - - - COSV56556349 MODIFIER - 1 - protein_coding YES ENSP00000256474 - - - - 1 1 +3_10963200_C/A 3:10963200 A ENSG00000286962 ENST00000656787 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs178 3:13336897 A ENSG00000132182 ENST00000254508 Transcript missense_variant 3670/7206 3574/5664 1192/1887 I/F Atc/Ttc - MODERATE - -1 - protein_coding YES ENSP00000254508 0.01 0.712 - - - - +rs37 3:25565017 G ENSG00000077092 ENST00000330688 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000332296 - - - - - - +rs721 3:28027872 C ENSG00000235493 ENST00000356047 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA - - - - - - - - +rs135 3:30429305 C ENSG00000289450 ENST00000691186 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs23 3:39059372 C ENSG00000114742 ENST00000302313 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000307491 - - - - - - +rs727 3:47378509 A ENSG00000260236 ENST00000568593 Transcript downstream_gene_variant - - - - - - MODIFIER 580 -1 - lncRNA YES - - - - - - - +rs727 3:47378509 A ENSG00000076201 ENST00000265562 Transcript upstream_gene_variant - - - - - - MODIFIER 2512 1 - protein_coding YES ENSP00000265562 - - - - - - +rs268 3:47839379 T ENSG00000132153 ENST00000445061 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000405620 - - - - - - +rs873 3:55062103 G ENSG00000157445 ENST00000474759 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000419101 - - - - - - +rs664 3:56288165 C ENSG00000187672 ENST00000288221 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000288221 - - - - - - +rs815 3:64813843 G ENSG00000241684 ENST00000650103 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs107 3:70306576 G ENSG00000240405 ENST00000642114 Transcript intron_variant,non_coding_transcript_variant - - - - - rs536908099 MODIFIER - 1 - lncRNA YES - - - 0.0002 - - - +rs107 3:70306576 G ENSG00000242120 ENST00000567252 Transcript intron_variant - - - - - rs536908099 MODIFIER - -1 - protein_coding YES ENSP00000490638 - - 0.0002 - - - +rs492 3:72140079 T ENSG00000241163 ENST00000626474 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs930 3:72906610 G ENSG00000172986 ENST00000389617 Transcript intron_variant - - - - - COSV67474846 MODIFIER - 1 - protein_coding YES ENSP00000374268 - - - - 1 1 +rs523 3:74562325 T ENSG00000113805 ENST00000263665 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000263665 - - - - - - +rs583 3:78839934 A ENSG00000169855 ENST00000464233 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000420321 - - - - - - +rs170 3:81414874 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs548 3:97458263 T ENSG00000080224 ENST00000389672 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000374323 - - - - - - +rs546 3:97649369 G ENSG00000080224 ENST00000389672 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000374323 - - - - - - +rs543 3:97949211 A ENSG00000080200 ENST00000389622 Transcript downstream_gene_variant - - - - - - MODIFIER 4227 1 - protein_coding YES ENSP00000374273 - - - - - - +rs543 3:97949211 A ENSG00000170854 ENST00000394198 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000377748 - - - - - - +rs838 3:99075824 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs311 3:101580812 C ENSG00000081154 ENST00000265260 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000265260 - - - - - - +rs311 3:101580812 C ENSG00000242299 ENST00000496294 Transcript upstream_gene_variant - - - - - - MODIFIER 3865 -1 - processed_pseudogene YES - - - - - - - +rs382 3:103151123 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs179 3:103329532 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs19 3:103928516 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs341 3:105180981 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs470 3:111113126 G ENSG00000177707 ENST00000485303 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000418070 - - - - - - +rs467 3:111866541 A ENSG00000144824 ENST00000431670 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000405405 - - - - - - +rs718 3:117455785 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs506 3:120258434 C ENSG00000175697 ENST00000464295 Transcript intron_variant - - - - - rs1470110063 MODIFIER - -1 - protein_coding YES ENSP00000417261 - - - - - - +rs367 3:120364684 G ENSG00000240661 ENST00000634410 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - transcribed_unitary_pseudogene YES - - - - - - - +rs367 3:120364684 G ENSG00000282950 ENST00000634744 Transcript downstream_gene_variant - - - - - - MODIFIER 1309 -1 - lncRNA YES - - - - - - - +rs488 3:122803142 C ENSG00000138463 ENST00000261038 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000261038 - - - - - - +rs146 3:125013245 G ENSG00000173706 ENST00000311127 Transcript synonymous_variant 2441/9195 2334/4146 778/1381 L ctT/ctC - LOW - -1 - protein_coding YES ENSP00000311502 - - - - - - +rs318 3:127342540 T ENSG00000244215 ENST00000488425 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs104 3:133734681 A ENSG00000291042 ENST00000460564 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs665 3:139349025 C ENSG00000272656 ENST00000608472 Transcript non_coding_transcript_exon_variant 347/348 - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs665 3:139349025 C ENSG00000184432 ENST00000503326 Transcript downstream_gene_variant - - - - - - MODIFIER 4921 -1 - protein_coding - ENSP00000426682 - - - - - - +rs665 3:139349025 C ENSG00000175110 ENST00000680020 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000505414 - - - - - - +rs791 3:140275153 C ENSG00000158258 ENST00000458420 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000402460 - - - - - - +rs102 3:145304395 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs274 3:147901161 T - - - intergenic_variant - - - - - rs1305018800 MODIFIER - - - - - - - - - - - - +rs123 3:150051584 A ENSG00000243944 ENST00000487840 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs123 3:150051584 A ENSG00000070087 ENST00000497148 Transcript upstream_gene_variant - - - - - - MODIFIER 796 -1 - protein_coding - ENSP00000417817 - - - - - - +rs123 3:150051584 A ENSG00000240477 ENST00000466044 Transcript downstream_gene_variant - - - - - - MODIFIER 128 1 - processed_pseudogene YES - - - - - - - +rs648 3:150399452 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs748 3:158349305 A ENSG00000174891 ENST00000611884 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000481697 - - - - - - +rs408 3:158851780 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs963 3:160382108 C ENSG00000068885 ENST00000326448 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000312778 - - - - - - +rs751 3:168465216 C ENSG00000206120 ENST00000431685 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - transcribed_unitary_pseudogene YES - - - - - - - +rs197 3:171089322 T ENSG00000154310 ENST00000436636 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000399511 - - - - - - +rs376 3:177499702 C ENSG00000252028 ENST00000516219 Transcript downstream_gene_variant - - - - - - MODIFIER 3601 -1 - misc_RNA YES - - - - - - - +rs376 3:177499702 C ENSG00000228221 ENST00000656037 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs581 3:185836100 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs596 3:191856146 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs701 3:192824921 G ENSG00000180611 ENST00000392452 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000376246 - - - - - - +rs434 3:193390684 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs70 3:194577309 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs598 3:194762766 A ENSG00000237222 ENST00000667646 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs598 3:194762766 A ENSG00000230401 ENST00000422271 Transcript downstream_gene_variant - - - - - - MODIFIER 2472 -1 - lncRNA YES - - - - - - - +rs356 3:197345633 A ENSG00000286870 ENST00000669801 Transcript downstream_gene_variant - - - - - - MODIFIER 4927 1 - lncRNA YES - - - - - - - +rs693 3:197732094 T ENSG00000145016 ENST00000296343 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000296343 - - - - - - diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/variants.parquet b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/variants.parquet new file mode 100644 index 00000000..35d9aaf3 Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_mixedIDs/input/variants.parquet differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/expected/merged_annotations_expected.parquet b/tests/annotations/test_data/merge_annotations/merge_annotations_small/expected/merged_annotations_expected.parquet new file mode 100644 index 00000000..6ea8c2d8 Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_small/expected/merged_annotations_expected.parquet differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test.vcf b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test.vcf new file mode 100644 index 00000000..357a3a89 --- /dev/null +++ b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test.vcf @@ -0,0 +1,60 @@ +chr3 3474106 rs111 C T +chr3 6134790 rs881 A G +chr3 6492413 rs94 A G +chr3 7479092 rs200 T A +chr3 10151779 rs337 G T +chr3 10963200 rs632 C A +chr3 13336897 rs178 T A +chr3 25565017 rs37 C G +chr3 28027872 rs721 T C +chr3 30429305 rs135 T C +chr3 39059372 rs23 A C +chr3 47378509 rs727 T A +chr3 47839379 rs268 C T +chr3 55062103 rs873 A G +chr3 56288165 rs664 G C +chr3 64813843 rs815 A G +chr3 70306576 rs107 C G +chr3 72140079 rs492 A T +chr3 72906610 rs930 T G +chr3 74562325 rs523 G T +chr3 78839934 rs583 G A +chr3 81414874 rs170 A T +chr3 97458263 rs548 A T +chr3 97649369 rs546 C G +chr3 97949211 rs543 G A +chr3 99075824 rs838 T C +chr3 101580812 rs311 A C +chr3 103151123 rs382 C A +chr3 103329532 rs179 T C +chr3 103928516 rs19 A T +chr3 105180981 rs341 A G +chr3 111113126 rs470 A G +chr3 111866541 rs467 T A +chr3 117455785 rs718 C A +chr3 120258434 rs506 A C +chr3 120364684 rs367 T G +chr3 122803142 rs488 A C +chr3 125013245 rs146 A G +chr3 127342540 rs318 G T +chr3 133734681 rs104 G A +chr3 139349025 rs665 T C +chr3 140275153 rs791 G C +chr3 145304395 rs102 C G +chr3 147901161 rs274 C T +chr3 150051584 rs123 C A +chr3 150399452 rs648 T A +chr3 158349305 rs748 T A +chr3 158851780 rs408 A T +chr3 160382108 rs963 A C +chr3 168465216 rs751 G C +chr3 171089322 rs197 A T +chr3 177499702 rs376 G C +chr3 185836100 rs581 G T +chr3 191856146 rs596 G C +chr3 192824921 rs701 C G +chr3 193390684 rs434 A C +chr3 194577309 rs70 T G +chr3 194762766 rs598 G A +chr3 197345633 rs356 T A +chr3 197732094 rs693 G T diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_hg2_deepripe.csv.gz b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_hg2_deepripe.csv.gz new file mode 100644 index 00000000..69a44862 Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_hg2_deepripe.csv.gz differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_k5_deepripe.csv.gz b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_k5_deepripe.csv.gz new file mode 100644 index 00000000..cc970e2a Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_k5_deepripe.csv.gz differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_parclip.csv.gz b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_parclip.csv.gz new file mode 100644 index 00000000..271142ab Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_parclip.csv.gz differ diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_vep.tsv b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_vep.tsv new file mode 100644 index 00000000..ef9eeab0 --- /dev/null +++ b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/test_vep.tsv @@ -0,0 +1,122 @@ +## ENSEMBL VARIANT EFFECT PREDICTOR v110.1 +## Output produced at 2024-04-24 15:05:38 +## Using cache in repo_dir/ensembl-vep/cache/homo_sapiens/110_GRCh38 +## Using API version 110, DB version ? +## ensembl-variation version 110.d34d25e +## ensembl-io version 110.b1a0d57 +## ensembl version 110.584a8f3 +## ensembl-funcgen version 110.24e6da6 +## dbSNP version 154 +## 1000genomes version phase3 +## gencode version GENCODE 44 +## polyphen version 2.2.3 +## sift version 6.2.1 +## gnomADe version r2.1.1 +## ClinVar version 202301 +## HGMD-PUBLIC version 20204 +## assembly version GRCh38.p14 +## COSMIC version 97 +## regbuild version 1.0 +## gnomADg version v3.1.2 +## genebuild version 2014-07 +## Column descriptions: +## Uploaded_variation : Identifier of uploaded variant +## Location : Location of variant in standard coordinate format (chr:start or chr:start-end) +## Allele : The variant allele used to calculate the consequence +## Gene : Stable ID of affected gene +## Feature : Stable ID of feature +## Feature_type : Type of feature - Transcript, RegulatoryFeature or MotifFeature +## Consequence : Consequence type +## cDNA_position : Relative position of base pair in cDNA sequence +## CDS_position : Relative position of base pair in coding sequence +## Protein_position : Relative position of amino acid in protein +## Amino_acids : Reference and variant amino acids +## Codons : Reference and variant codon sequence +## Existing_variation : Identifier(s) of co-located known variants +## IMPACT : Subjective impact classification of consequence type +## DISTANCE : Shortest distance from variant to transcript +## STRAND : Strand of the feature (1/-1) +## FLAGS : Transcript quality flags +## BIOTYPE : Biotype of transcript or regulatory feature +## CANONICAL : Indicates if transcript is canonical for this gene +## ENSP : Protein identifer +## SIFT : SIFT prediction and/or score +## PolyPhen : PolyPhen prediction and/or score +## AF : Frequency of existing variant in 1000 Genomes combined population +## CLIN_SIG : ClinVar clinical significance of the dbSNP variant +## SOMATIC : Somatic status of existing variant +## PHENO : Indicates if existing variant(s) is associated with a phenotype, disease or trait; multiple values correspond to multiple variants +## VEP command-line: vep --af --assembly GRCh38 --biotype --cache --canonical --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/Plugins --fasta [PATH]/GRCh38.primary_assembly.genome.fa --force_overwrite --fork 5 --format vcf --input_file [PATH]/chr3test_stripped.vcf.gz --no_escape --no_stats --offline --output_file [PATH]/chr3test_vep_anno.tsv --per_gene --pick_order biotype,mane_select,mane_plus_clinical,canonical,appris,tsl,ccds,rank,length,ensembl,refseq --polyphen s --protein --sift s --tab --total_length +#Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation IMPACT DISTANCE STRAND FLAGS BIOTYPE CANONICAL ENSP SIFT PolyPhen AF CLIN_SIG SOMATIC PHENO +rs111 3:3474106 T ENSG00000223727 ENST00000420000 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs881 3:6134790 G - - - intergenic_variant - - - - - rs1007430246 MODIFIER - - - - - - - - - - - - +rs94 3:6492413 G ENSG00000189229 ENST00000655754 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs200 3:7479092 A ENSG00000196277 ENST00000357716 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000350348 - - - - - - +rs337 3:10151779 T ENSG00000287086 ENST00000660063 Transcript intron_variant,non_coding_transcript_variant - - - - - COSV56556349 MODIFIER - -1 - lncRNA YES - - - - - 1 1 +rs337 3:10151779 T ENSG00000134086 ENST00000256474 Transcript 3_prime_UTR_variant 2526/4414 - - - - COSV56556349 MODIFIER - 1 - protein_coding YES ENSP00000256474 - - - - 1 1 +rs632 3:10963200 A ENSG00000286962 ENST00000656787 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs178 3:13336897 A ENSG00000132182 ENST00000254508 Transcript missense_variant 3670/7206 3574/5664 1192/1887 I/F Atc/Ttc - MODERATE - -1 - protein_coding YES ENSP00000254508 0.01 0.712 - - - - +rs37 3:25565017 G ENSG00000077092 ENST00000330688 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000332296 - - - - - - +rs721 3:28027872 C ENSG00000235493 ENST00000356047 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA - - - - - - - - +rs135 3:30429305 C ENSG00000289450 ENST00000691186 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs23 3:39059372 C ENSG00000114742 ENST00000302313 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000307491 - - - - - - +rs727 3:47378509 A ENSG00000260236 ENST00000568593 Transcript downstream_gene_variant - - - - - - MODIFIER 580 -1 - lncRNA YES - - - - - - - +rs727 3:47378509 A ENSG00000076201 ENST00000265562 Transcript upstream_gene_variant - - - - - - MODIFIER 2512 1 - protein_coding YES ENSP00000265562 - - - - - - +rs268 3:47839379 T ENSG00000132153 ENST00000445061 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000405620 - - - - - - +rs873 3:55062103 G ENSG00000157445 ENST00000474759 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000419101 - - - - - - +rs664 3:56288165 C ENSG00000187672 ENST00000288221 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000288221 - - - - - - +rs815 3:64813843 G ENSG00000241684 ENST00000650103 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs107 3:70306576 G ENSG00000240405 ENST00000642114 Transcript intron_variant,non_coding_transcript_variant - - - - - rs536908099 MODIFIER - 1 - lncRNA YES - - - 0.0002 - - - +rs107 3:70306576 G ENSG00000242120 ENST00000567252 Transcript intron_variant - - - - - rs536908099 MODIFIER - -1 - protein_coding YES ENSP00000490638 - - 0.0002 - - - +rs492 3:72140079 T ENSG00000241163 ENST00000626474 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs930 3:72906610 G ENSG00000172986 ENST00000389617 Transcript intron_variant - - - - - COSV67474846 MODIFIER - 1 - protein_coding YES ENSP00000374268 - - - - 1 1 +rs523 3:74562325 T ENSG00000113805 ENST00000263665 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000263665 - - - - - - +rs583 3:78839934 A ENSG00000169855 ENST00000464233 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000420321 - - - - - - +rs170 3:81414874 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs548 3:97458263 T ENSG00000080224 ENST00000389672 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000374323 - - - - - - +rs546 3:97649369 G ENSG00000080224 ENST00000389672 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000374323 - - - - - - +rs543 3:97949211 A ENSG00000080200 ENST00000389622 Transcript downstream_gene_variant - - - - - - MODIFIER 4227 1 - protein_coding YES ENSP00000374273 - - - - - - +rs543 3:97949211 A ENSG00000170854 ENST00000394198 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000377748 - - - - - - +rs838 3:99075824 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs311 3:101580812 C ENSG00000081154 ENST00000265260 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000265260 - - - - - - +rs311 3:101580812 C ENSG00000242299 ENST00000496294 Transcript upstream_gene_variant - - - - - - MODIFIER 3865 -1 - processed_pseudogene YES - - - - - - - +rs382 3:103151123 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs179 3:103329532 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs19 3:103928516 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs341 3:105180981 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs470 3:111113126 G ENSG00000177707 ENST00000485303 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000418070 - - - - - - +rs467 3:111866541 A ENSG00000144824 ENST00000431670 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000405405 - - - - - - +rs718 3:117455785 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs506 3:120258434 C ENSG00000175697 ENST00000464295 Transcript intron_variant - - - - - rs1470110063 MODIFIER - -1 - protein_coding YES ENSP00000417261 - - - - - - +rs367 3:120364684 G ENSG00000240661 ENST00000634410 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - transcribed_unitary_pseudogene YES - - - - - - - +rs367 3:120364684 G ENSG00000282950 ENST00000634744 Transcript downstream_gene_variant - - - - - - MODIFIER 1309 -1 - lncRNA YES - - - - - - - +rs488 3:122803142 C ENSG00000138463 ENST00000261038 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000261038 - - - - - - +rs146 3:125013245 G ENSG00000173706 ENST00000311127 Transcript synonymous_variant 2441/9195 2334/4146 778/1381 L ctT/ctC - LOW - -1 - protein_coding YES ENSP00000311502 - - - - - - +rs318 3:127342540 T ENSG00000244215 ENST00000488425 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs104 3:133734681 A ENSG00000291042 ENST00000460564 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs665 3:139349025 C ENSG00000272656 ENST00000608472 Transcript non_coding_transcript_exon_variant 347/348 - - - - - MODIFIER - -1 - lncRNA YES - - - - - - - +rs665 3:139349025 C ENSG00000184432 ENST00000503326 Transcript downstream_gene_variant - - - - - - MODIFIER 4921 -1 - protein_coding - ENSP00000426682 - - - - - - +rs665 3:139349025 C ENSG00000175110 ENST00000680020 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000505414 - - - - - - +rs791 3:140275153 C ENSG00000158258 ENST00000458420 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000402460 - - - - - - +rs102 3:145304395 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs274 3:147901161 T - - - intergenic_variant - - - - - rs1305018800 MODIFIER - - - - - - - - - - - - +rs123 3:150051584 A ENSG00000243944 ENST00000487840 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs123 3:150051584 A ENSG00000070087 ENST00000497148 Transcript upstream_gene_variant - - - - - - MODIFIER 796 -1 - protein_coding - ENSP00000417817 - - - - - - +rs123 3:150051584 A ENSG00000240477 ENST00000466044 Transcript downstream_gene_variant - - - - - - MODIFIER 128 1 - processed_pseudogene YES - - - - - - - +rs648 3:150399452 A - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs748 3:158349305 A ENSG00000174891 ENST00000611884 Transcript intron_variant - - - - - - MODIFIER - 1 - protein_coding YES ENSP00000481697 - - - - - - +rs408 3:158851780 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs963 3:160382108 C ENSG00000068885 ENST00000326448 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000312778 - - - - - - +rs751 3:168465216 C ENSG00000206120 ENST00000431685 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - transcribed_unitary_pseudogene YES - - - - - - - +rs197 3:171089322 T ENSG00000154310 ENST00000436636 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000399511 - - - - - - +rs376 3:177499702 C ENSG00000252028 ENST00000516219 Transcript downstream_gene_variant - - - - - - MODIFIER 3601 -1 - misc_RNA YES - - - - - - - +rs376 3:177499702 C ENSG00000228221 ENST00000656037 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs581 3:185836100 T - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs596 3:191856146 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs701 3:192824921 G ENSG00000180611 ENST00000392452 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000376246 - - - - - - +rs434 3:193390684 C - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs70 3:194577309 G - - - intergenic_variant - - - - - - MODIFIER - - - - - - - - - - - - +rs598 3:194762766 A ENSG00000237222 ENST00000667646 Transcript intron_variant,non_coding_transcript_variant - - - - - - MODIFIER - 1 - lncRNA YES - - - - - - - +rs598 3:194762766 A ENSG00000230401 ENST00000422271 Transcript downstream_gene_variant - - - - - - MODIFIER 2472 -1 - lncRNA YES - - - - - - - +rs356 3:197345633 A ENSG00000286870 ENST00000669801 Transcript downstream_gene_variant - - - - - - MODIFIER 4927 1 - lncRNA YES - - - - - - - +rs693 3:197732094 T ENSG00000145016 ENST00000296343 Transcript intron_variant - - - - - - MODIFIER - -1 - protein_coding YES ENSP00000296343 - - - - - - diff --git a/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/variants.parquet b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/variants.parquet new file mode 100644 index 00000000..35d9aaf3 Binary files /dev/null and b/tests/annotations/test_data/merge_annotations/merge_annotations_small/input/variants.parquet differ diff --git 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'DeepRipe_plus_ELAVL1_parclip' : 0 + 'TARDBP_parclip' : + 'DeepRipe_plus_TARDBP_parclip' : 0 + 'HNRNPD_parclip' : + 'DeepRipe_plus_HNRNPD_parclip' : 0 + 'MBNL1_parclip' : + 'DeepRipe_plus_MBNL1_parclip' : 0 + 'QKI_parclip' : + 'DeepRipe_plus_QKI_parclip' : 0 + 'Consequence_splice_acceptor_variant' : + 'Consequence_splice_acceptor_variant' : 0 + 'Consequence_splice_donor_variant' : + 'Consequence_splice_donor_variant' : 0 + 'Consequence_stop_gained' : + 'Consequence_stop_gained' : 0 + 'Consequence_frameshift_variant' : + 'Consequence_frameshift_variant' : 0 + 'Consequence_stop_lost' : + 'Consequence_stop_lost' : 0 + 'Consequence_start_lost' : + 'Consequence_start_lost' : 0 + 'Consequence_inframe_insertion' : + 'Consequence_inframe_insertion' : 0 + 'Consequence_inframe_deletion' : + 'Consequence_inframe_deletion' : 0 + 'Consequence_missense_variant' : + 'Consequence_missense_variant' : 0 + 'Consequence_protein_altering_variant' : + 'Consequence_protein_altering_variant' : 0 + 'Consequence_splice_region_variant' : + 'Consequence_splice_region_variant' : 0 + 'DeepSEA_PC_1' : + 'DeepSEA_PC_1' : 0 + 'DeepSEA_PC_2' : + 'DeepSEA_PC_2' : 0 + 'DeepSEA_PC_3' : + 'DeepSEA_PC_3' : 0 + 'DeepSEA_PC_4' : + 'DeepSEA_PC_4' : 0 + 'DeepSEA_PC_5' : + 'DeepSEA_PC_5' : 0 + 'DeepSEA_PC_6' : + 'DeepSEA_PC_6' : 0 + 'AF' : + 'AF' : 0 diff --git a/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/input/vep_deepripe.parquet b/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/input/vep_deepripe.parquet new file mode 100644 index 00000000..715ee750 Binary files /dev/null and b/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/input/vep_deepripe.parquet differ diff --git a/tests/annotations/test_data/process_annotations/process_annotations_small/expected_variants.parquet b/tests/annotations/test_data/process_annotations/process_annotations_small/expected_variants.parquet new file mode 100644 index 00000000..e69de29b diff --git a/tests/annotations/test_data/process_annotations/process_annotations_small/in_variants.parquet b/tests/annotations/test_data/process_annotations/process_annotations_small/in_variants.parquet new file mode 100644 index 00000000..e69de29b diff --git a/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/expected/expected.parquet b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/expected/expected.parquet new file mode 100644 index 00000000..710d4112 Binary files /dev/null and b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/expected/expected.parquet differ diff --git a/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotation_colnames_filling_values.yaml b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotation_colnames_filling_values.yaml new file mode 100644 index 00000000..fe0c483b --- /dev/null +++ b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotation_colnames_filling_values.yaml @@ -0,0 +1,63 @@ +annotation_column_names: + 'af' : + 'combined_UKB_NFE_AF' : 0 + 'maf_mb' : + 'combined_UKB_NFE_AF_MB' : 10000 + 'maf' : + 'combined_UKB_NFE_MAF' : 0 + 'PolyPhen' : + 'polyphen_score' : 0 + 'SIFT' : + 'sift_score' : 1 + 'QKI_hg2' : + 'DeepRipe_plus_QKI_lip_hg2' : 0 + 'QKI_k5' : + 'DeepRipe_plus_QKI_clip_k5' : 0 + 'KHDRBS1_k5' : + 'DeepRipe_plus_KHDRBS1_clip_k5' : 0 + 'ELAVL1_parclip' : + 'DeepRipe_plus_ELAVL1_parclip' : 0 + 'TARDBP_parclip' : + 'DeepRipe_plus_TARDBP_parclip' : 0 + 'HNRNPD_parclip' : + 'DeepRipe_plus_HNRNPD_parclip' : 0 + 'MBNL1_parclip' : + 'DeepRipe_plus_MBNL1_parclip' : 0 + 'QKI_parclip' : + 'DeepRipe_plus_QKI_parclip' : 0 + 'Consequence_splice_acceptor_variant' : + 'Consequence_splice_acceptor_variant' : 0 + 'Consequence_splice_donor_variant' : + 'Consequence_splice_donor_variant' : 0 + 'Consequence_stop_gained' : + 'Consequence_stop_gained' : 0 + 'Consequence_frameshift_variant' : + 'Consequence_frameshift_variant' : 0 + 'Consequence_stop_lost' : + 'Consequence_stop_lost' : 0 + 'Consequence_start_lost' : + 'Consequence_start_lost' : 0 + 'Consequence_inframe_insertion' : + 'Consequence_inframe_insertion' : 0 + 'Consequence_inframe_deletion' : + 'Consequence_inframe_deletion' : 0 + 'Consequence_missense_variant' : + 'Consequence_missense_variant' : 0 + 'Consequence_protein_altering_variant' : + 'Consequence_protein_altering_variant' : 0 + 'Consequence_splice_region_variant' : + 'Consequence_splice_region_variant' : 0 + 'DeepSEA_PC_1' : + 'DeepSEA_PC_1' : 0 + 'DeepSEA_PC_2' : + 'DeepSEA_PC_2' : 0 + 'DeepSEA_PC_3' : + 'DeepSEA_PC_3' : 0 + 'DeepSEA_PC_4' : + 'DeepSEA_PC_4' : 0 + 'DeepSEA_PC_5' : + 'DeepSEA_PC_5' : 0 + 'DeepSEA_PC_6' : + 'DeepSEA_PC_6' : 0 + 'AF' : + 'AF' : 0 diff --git a/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotations.parquet b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotations.parquet new file mode 100644 index 00000000..cf3bad1a Binary files /dev/null and b/tests/annotations/test_data/select_rename_fill_columns/select_rename_fill_columns_small/input/annotations.parquet differ diff --git a/tests/deeprvat/test_train.py b/tests/deeprvat/test_train.py index d97cd2d8..f60e0f36 100644 --- a/tests/deeprvat/test_train.py +++ b/tests/deeprvat/test_train.py @@ -61,7 +61,6 @@ def make_multipheno_data(): ) data[p]["input_tensor"] = data[p]["input_tensor_zarr"][:] data[p]["samples"] = {"train": np.arange(data[p]["y"].shape[0])} - data[p]["sample_indices"] = np.arange(data[p]["y"].shape[0]) return data @@ -147,10 +146,9 @@ def test_make_dataset(phenotype: str, min_variant_count: int, tmp_path: Path): yaml.dump(config, f) # This is the function we want to test - input_tensor_out_file = tmp_path / "input_tensor.zarr" - covariates_out_file = tmp_path / "covariates.zarr" - y_out_file = tmp_path / "y.zarr" - samples_out_file = tmp_path / "sample_ids.zarr" + input_tensor_out_file = str(tmp_path / "input_tensor.zarr") + covariates_out_file = str(tmp_path / "covariates.zarr") + y_out_file = str(tmp_path / "y.zarr") logger.info("Constructing test dataset") _ = make_dataset_( False, @@ -161,7 +159,6 @@ def test_make_dataset(phenotype: str, min_variant_count: int, tmp_path: Path): input_tensor_out_file, covariates_out_file, y_out_file, - samples_out_file, ) # Load the data it output