The variant call format and VCFtools.

TitleThe variant call format and VCFtools.
Publication TypeJournal Article
Year of Publication2011
AuthorsDanecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R
Corporate Authors1000 Genomes Project Analysis Group
JournalBioinformatics (Oxford, England)
Date Published2011 Aug 1
KeywordsAlleles, Genetic Variation, Genome, Human, Genomics, Genotype, Humans, Information Storage and Retrieval, Software

SUMMARY: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API. AVAILABILITY:

Alternate JournalBioinformatics