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ClinVar data parsing
2017
Wellcome Open Research
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.
doi:10.12688/wellcomeopenres.11640.1
pmid:28630944
pmcid:PMC5473414
fatcat:ahkz2duzebdtnoeaksockxplc4