The variant call format and VCFtools

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    Author
    Danecek, P; Auton, A; Abecasis, G; Albers, CA; Banks, E; DePristo, MA; Handsaker, RE; Lunter, G; Marth, GT; Sherry, ST; ...
    Date
    2011-08-01
    Source Title
    Bioinformatics
    Publisher
    OXFORD UNIV PRESS
    University of Melbourne Author/s
    Dunstan, Sarah
    Affiliation
    Doherty Institute
    Metadata
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    Document Type
    Journal Article
    Citations
    Danecek, P., Auton, A., Abecasis, G., Albers, C. A., Banks, E., DePristo, M. A., Handsaker, R. E., Lunter, G., Marth, G. T., Sherry, S. T., McVean, G. & Durbin, R. (2011). The variant call format and VCFtools. BIOINFORMATICS, 27 (15), pp.2156-2158. https://doi.org/10.1093/bioinformatics/btr330.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/258213
    DOI
    10.1093/bioinformatics/btr330
    Abstract
    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

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