ClinVar: improvements to accessing data

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ClinVar data parsing

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...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2019

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/gkz972