title: The variant call format and VCFtools.
abstract: CONCLUSIONS
  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.
  
  
  BACKGROUND
  http://vcftools.sourceforge.net
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK.
authors.forename: Petr
authors.initials: P
authors.lastname: Danecek
authors.forename: Adam
authors.initials: A
authors.lastname: Auton
authors.forename: Goncalo
authors.initials: G
authors.lastname: Abecasis
authors.forename: Cornelis A
authors.initials: CA
authors.lastname: Albers
authors.forename: Eric
authors.initials: E
authors.lastname: Banks
authors.forename: Mark A
authors.initials: MA
authors.lastname: DePristo
authors.forename: Robert E
authors.initials: RE
authors.lastname: Handsaker
authors.forename: Gerton
authors.initials: G
authors.lastname: Lunter
authors.forename: Gabor T
authors.initials: GT
authors.lastname: Marth
authors.forename: Stephen T
authors.initials: ST
authors.lastname: Sherry
authors.forename: Gilean
authors.initials: G
authors.lastname: McVean
authors.forename: Richard
authors.initials: R
authors.lastname: Durbin
mesh_terms: D000483:Alleles; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D005838:Genotype; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods*; D012984:Software