Journal
BIOINFORMATICS
Volume 27, Issue 15, Pages 2156-2158Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btr330
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Funding
- Medical Research Council, UK
- British Heart Foundation [RG/09/012/28096]
- Wellcome Trust [090532/Z/09/Z, 075491/Z/04]
- National Human Genome Research Institute [54 HG003067, R01 HG004719, U01 HG005208]
- National Institutes of Health
- National Library of Medicine
- British Heart Foundation [RG/09/012/28096] Funding Source: researchfish
- Medical Research Council [G0801056B] Funding Source: researchfish
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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.
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