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The variant call format and VCFtools.

Authors :
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
Source :
Bioinformatics. Aug2011, Vol. 27 Issue 15, p2156-2158. 3p.
Publication Year :
2011

Abstract

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: http://vcftools.sourceforge.netContact: rd@sanger.ac.uk [ABSTRACT FROM PUBLISHER]

Details

Language :
English
ISSN :
13674803
Volume :
27
Issue :
15
Database :
Academic Search Index
Journal :
Bioinformatics
Publication Type :
Academic Journal
Accession number :
62989070