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The variant call format and VCFtools

Open access
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, 1000 Genomes Project Analysis Group·2011·Bioinformatics

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.net Contact: rd@sanger.ac.uk

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Registry

Crossref · 10.1093/bioinformatics/btr330

Cites

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Metadata

Authors
Danecek, P., Auton, A., Abecasis, G., Albers, C. A., Banks, E., DePristo, M. A., Handsaker, R. E., Lunter, G., Marth, G. T., Sherry, S. T., McVean, G., Durbin, R., & 1000 Genomes Project Analysis Group
Venue
Bioinformatics
Published
2011-06-07
Volume
27
Issue
15
Pages
2156-2158
ISSN
  • 1367-4803 (ISSN-L)
  • 1367-4811
OpenAlex
W2149992227
Cited by
16,200
References
2
FWCI
52.43
Type
journal article
Language
en
Open access
hybrid

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