ClinVar data parsing [version 1; referees: 2 approved]

Wellcome Open Research

Anne H. O'Donnell-Luria¹  James S. Ware²  Eric V. Minikel³  Daniel G. MacArthur³  Ben Weisburd³  Xiaolei Zhang⁴ 

[1] Boston Children’s Hospital, Boston, Massachusetts, 02115, USA;MRC London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK;Program in Medical and Population Genetics,, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA;Royal Brompton Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, SW3 6NP, UK;

关键词: Bioinformatics;    Genomics;   

DOI  :  10.12688/wellcomeopenres.11640.1

来源: DOAJ

【 摘 要 】

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. Overall, this work provides ClinVar data in a format that is easier to work with and can be directly loaded into a variety of popular analysis tools such as R, python pandas, and SQL databases.

【 授权许可】

Unknown