The variant call format and VCFtools

  title={The variant call format and VCFtools},
  author={Petr Danecek and Adam Auton and Gonçalo R. Abecasis and Cornelis A. Albers and Eric Banks and Mark A. DePristo and Robert E. Handsaker and Gerton Lunter and Gabor T. Marth and Stephen T. Sherry and Gil McVean and Richard Durbin},
  pages={2156 - 2158}
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… Expand
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The variant call format and VCFtools
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, togetherwith rich annotations. Expand
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