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 a...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
Materias:
Software Tool Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473414/
https://www.ncbi.nlm.nih.gov/pubmed/28630944
http://dx.doi.org/10.12688/wellcomeopenres.11640.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473414/
https://www.ncbi.nlm.nih.gov/pubmed/28630944
http://dx.doi.org/10.12688/wellcomeopenres.11640.1

Ejemplares similares