There is a newer version of the record available.

Published October 31, 2019 | Version v3
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.

This new repository version fixed the duplicated and missing variants problem in the previous version for SNVs, and updated the CAPICE score for indels.  

Repository description:

1) "paper_datasets.tar.gz" contains all datasets used in the CAPICE paper;

2) "capice_indels.tsv.gz" contains the precomputed scores for all possible InDels in genome build 37

3) "capice_snvs.tsv.gz" contains the precomputed scores for all possible SNVs in genome build 37

 

Files

Files (36.5 GB)

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md5:3739ff1fd6cb0b885ae9d33bbe0be0a9
471.4 MB Download
md5:e8e2b60691c38ae8c44d48009b48189b
36.0 GB Download
md5:6f2b07409d9d86746773370670ceb0e0
17.1 MB Download