Published October 31, 2019
| Version v2
Dataset
Open
Evaluation datasets and pre-computed scores for: "CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations"
Authors/Creators
- 1. Genomics Coordination Center & Dept. of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Description
CAPICE is a computational method for predicting the pathogenicity of SNVs and InDels.
Repository description:
1) "paper_datasets.tar.gz" contains all datasets used in the CAPICE paper;
2) "all_InDels.vcf.gz" contains the precomputed scores for all possible InDels in genome build 37
3) "all_InDels.vcf.gz.tbi" is the tabix index file for file "all_InDels.vcf.gz"
4) "all_SNVs.vcf.gz" contains the precomputed scores for all possible SNVs in genome build 37
5) "all_SNVs.vcf.gz.tbi" is the tabix index file for file "all_SNVs.vcf.gz"