ClinVar data parsing.
Ontology highlight
ABSTRACT:
SUBMITTER: Zhang X
PROVIDER: S-EPMC5473414 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
ClinVar data parsing.
Zhang Xiaolei X Minikel Eric V EV O'Donnell-Luria Anne H AH MacArthur Daniel G DG Ware James S JS Weisburd Ben B
Wellcome open research 20170523
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 are often consulted when analyzing ClinVar variants. Overal ...[more]
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