ClinVar data parsing

Xiaolei Zhang; Eric Vallabh Minikel; Anne H. O’Donnell-Luria; Daniel G. MacArthur; James S. Ware; Ben Weisburd

doi:https://doi.org/10.12688/wellcomeopenres.11640.1

doi.org/10.12688/wellcomeopenres.11640.1

ClinVar data parsing

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,

..., Ben Weisburd

16

Wellcome open research

Volume: 2, Pages: 33 - 33

Published: May 23, 2017

Abstract

This software repository provides a pipeline for converting raw ClinVar data files into analysis-friendly tab-delimited tables, and also provides these tables for the most recent ClinVar release. Separate tables are generated for genome builds GRCh37 and GRCh38 as well as for mono-allelic variants and complex multi-allelic variants. Additionally, the tables are augmented with allele frequencies from the ExAC and gnomAD datasets as these...

Paper Fields

Paper Details

Title

ClinVar data parsing

DOI

doi.org/10.12688/wellcomeopenres.11640.1

Published Date

May 23, 2017

Journal

Wellcome open research

Volume

2

Pages

33 - 33

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