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Article

Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants.

BMC bioinformatics - 3 Sept 2024

Li Jennifer, Yang Andy, Carneiro Benedito A, Gamsiz Uzun Ece D, Massingham Lauren, Uzun Alper

Abstract excerpt

BACKGROUND: The variant call format (VCF) file is a structured and comprehensive text file crucial for researchers and clinicians in interpreting and understanding genomic variation data. It contains essential information about variant positions in the genome, along with alleles, genotype calls, and quality scores. Analyzing and visualizing these files, however, poses significant challenges due to the need for...

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PMID: 39227781
DOI: 10.1186/s12859-024-05875-7
PMCID: PMC11370019

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