ClinVar data parsing
نویسندگان
چکیده
منابع مشابه
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: Wellcome Open Research
سال: 2017
ISSN: 2398-502X
DOI: 10.12688/wellcomeopenres.11640.1