BCFtools/csq: haplotype-aware variant consequences

Danecek, P; McCarthy, SA

Danecek, P (reprint author), Wellcome Trust Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England.

BIOINFORMATICS, 2017; 33 (13): 2037

Abstract

Motivation: Prediction of functional variant consequences is an important part of sequencing pipelines, allowing the categorization and prioritization......

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