diff --git a/deeprvat/annotations/README.md b/deeprvat/annotations/README.md index 06ad3a46..2e576a02 100644 --- a/deeprvat/annotations/README.md +++ b/deeprvat/annotations/README.md @@ -13,9 +13,9 @@ The pipeline uses left-normalized bcf files containing variant information, a re BCFtools as well as HTSlib should be installed on the machine, [CADD](https://github.com/kircherlab/CADD-scripts/tree/master/src/scripts) as well as [VEP](http://www.ensembl.org/info/docs/tools/vep/script/vep_download.html) will be installed by the pipeline together with the [plugins](https://www.ensembl.org/info/docs/tools/vep/script/vep_plugins.html) for primateAI and spliceAI. Annotation data for CADD, spliceAI and primateAI should be downloaded. The path to the data may be specified in the corresponding [config file](config/deeprvat_annotation_config.yaml). Download path: -- [CADD](http://cadd.gs.washington.edu/download) -- [SpliceAI](https://basespace.illumina.com/s/otSPW8hnhaZR) -- [PrimateAI](https://basespace.illumina.com/s/yYGFdGih1rXL) +- [CADD](http://cadd.gs.washington.edu/download): "All possible SNVs of GRCh38/hg38" and "gnomad.genomes.r3.0.indel.tsv.gz" incl. their Tabix Indices +- [SpliceAI](https://basespace.illumina.com/s/otSPW8hnhaZR): "genome_scores_v1.3"/"spliceai_scores.raw.snv.hg38.vcf.gz" and "spliceai_scores.raw.indel.hg38.vcf.gz" +- [PrimateAI](https://basespace.illumina.com/s/yYGFdGih1rXL) PrimateAI supplementary data/"PrimateAI_scores_v0.2_GRCh38_sorted.tsv.bgz" ## Output @@ -73,8 +73,20 @@ Data for VEP plugins and the CADD cache are stored in `annotation data`. ## Running the annotation pipeline ### Preconfiguration -Inside the annotation directory create a directory annotation_dir and download/link the prescored files for CADD, SpliceAI, and PrimateAI. -Create a directory repo_dir, in which all required repositories will be cloned. +- Inside the annotation directory create a directory `repo_dir` and run the [annotation setup script](setup_annotation_workflow.sh) + ```shell + setup_annotation_workflow.sh repo_dir/ensembl-vep/cache repo_dir/ensembl-vep/Plugins repo_dir + ``` + or manually clone the repositories mentioned in the [requirements](#requirements) into `repo_dir` and install the needed conda environments with + ```shell + mamba env create -f repo_dir/absplice/environment.yaml + mamba env create -f repo_dir/kipoi-veff2/environment.minimal.linux.yml + ``` + If you already have some of the needed repositories on your machine you can edit the paths in the [config](../../pipelines/config/deeprvat_annotation_config.yaml). + + +- Inside the annotation directory create a directory `annotation_dir` and download/link the prescored files for CADD, SpliceAI, and PrimateAI (see [requirements](#requirements)) + ### Running the pipeline After configuration and activating the environment run the pipeline using snakemake: diff --git a/deeprvat_annotations.yml b/deeprvat_annotations.yml index 9260347d..e1834e9b 100644 --- a/deeprvat_annotations.yml +++ b/deeprvat_annotations.yml @@ -15,3 +15,6 @@ dependencies: - numpy=1.21.2 - tensorflow=2.11.0 - pyarrow=11.0.0 + #comment out lines below if you want to use preinstalled bcftools or samtools + - bcftools=1.17 + - samtools=1.17 \ No newline at end of file