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...
Auteurs principaux: | , , , , , , , , , , , |
---|---|
Format: | Journal article |
Langue: | English |
Publié: |
2011
|
_version_ | 1826257630157340672 |
---|---|
author | Danecek, P Auton, A Abecasis, G Albers, C Banks, E DePristo, M Handsaker, R Lunter, G Marth, G Sherry, S McVean, G Durbin, R |
author_facet | Danecek, P Auton, A Abecasis, G Albers, C Banks, E DePristo, M Handsaker, R Lunter, G Marth, G Sherry, S McVean, G Durbin, R |
author_sort | Danecek, P |
collection | OXFORD |
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. AVAILABILITY: http://vcftools.sourceforge.net |
first_indexed | 2024-03-06T18:21:12Z |
format | Journal article |
id | oxford-uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d |
institution | University of Oxford |
language | English |
last_indexed | 2024-03-06T18:21:12Z |
publishDate | 2011 |
record_format | dspace |
spelling | oxford-uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d2022-03-26T09:02:04ZThe variant call format and VCFtools.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496dEnglishSymplectic Elements at Oxford2011Danecek, PAuton, AAbecasis, GAlbers, CBanks, EDePristo, MHandsaker, RLunter, GMarth, GSherry, SMcVean, GDurbin, RSUMMARY: 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 |
spellingShingle | Danecek, P Auton, A Abecasis, G Albers, C Banks, E DePristo, M Handsaker, R Lunter, G Marth, G Sherry, S McVean, G Durbin, R The variant call format and VCFtools. |
title | 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_short | The variant call format and VCFtools. |
title_sort | variant call format and vcftools |
work_keys_str_mv | AT danecekp thevariantcallformatandvcftools AT autona thevariantcallformatandvcftools AT abecasisg thevariantcallformatandvcftools AT albersc thevariantcallformatandvcftools AT bankse thevariantcallformatandvcftools AT depristom thevariantcallformatandvcftools AT handsakerr thevariantcallformatandvcftools AT lunterg thevariantcallformatandvcftools AT marthg thevariantcallformatandvcftools AT sherrys thevariantcallformatandvcftools AT mcveang thevariantcallformatandvcftools AT durbinr thevariantcallformatandvcftools AT danecekp variantcallformatandvcftools AT autona variantcallformatandvcftools AT abecasisg variantcallformatandvcftools AT albersc variantcallformatandvcftools AT bankse variantcallformatandvcftools AT depristom variantcallformatandvcftools AT handsakerr variantcallformatandvcftools AT lunterg variantcallformatandvcftools AT marthg variantcallformatandvcftools AT sherrys variantcallformatandvcftools AT mcveang variantcallformatandvcftools AT durbinr variantcallformatandvcftools |