Article
The variant call format and VCFtools.
Bioinformatics (Oxford, England) - 1 Aug 2011
Danecek Petr, Auton Adam, Abecasis Goncalo, Albers Cornelis A, Banks Eric, DePristo Mark A, Handsaker Robert E, Lunter Gerton, Marth Gabor T, Sherry Stephen T, McVean Gilean, Durbin Richard
Abstract excerpt
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...
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