The variant call format and VCFtools

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 o...

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Main 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
Format:	Online
Language:	English
Published:	Oxford University Press 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137218/

id	pubmed-3137218
recordtype	oai_dc
spelling	pubmed-31372182011-07-15 The variant call format and VCFtools 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 Applications Note 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. Oxford University Press 2011-08-01 2011-06-07 /pmc/articles/PMC3137218/ /pubmed/21653522 http://dx.doi.org/10.1093/bioinformatics/btr330 Text en © The Author(s) 2011. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/2.5 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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
spellingShingle	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 The variant call format and VCFtools
author_facet	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
author_sort	Danecek, Petr
title	The variant call format and VCFtools
title_short	The variant call format and VCFtools
title_full	The variant call format and VCFtools
title_fullStr	The variant call format and VCFtools
title_full_unstemmed	The variant call format and VCFtools
title_sort	variant call format and vcftools
description	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.
publisher	Oxford University Press
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137218/
_version_	1611465750664445952

The variant call format and VCFtools

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