From d0865e7ac937f0aa4f4d612bb50a21a6c5dd3852 Mon Sep 17 00:00:00 2001 From: Magnus Wahlberg Date: Wed, 17 Jan 2024 11:09:37 +0100 Subject: [PATCH] Update annotations.md Change CADD link --- docs/annotations.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/annotations.md b/docs/annotations.md index 6ba208b5..a9532220 100644 --- a/docs/annotations.md +++ b/docs/annotations.md @@ -22,7 +22,7 @@ BCFtools as well as HTSlib should be installed on the machine, 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](https://github.com/PMBio/deeprvat/blob/main/pipelines/config/deeprvat_annotation_config.yaml). Download path: -- [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 +- [CADD](https://cadd.bihealth.org/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"