The variant call format and VCFtools

Abstract

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 Contact: rd@sanger.ac.uk

Keywords

dbSNPPerlComputer scienceSuiteSoftwareExomeAnnotationExome sequencingWorld Wide WebSingle-nucleotide polymorphismProgramming languageGeneticsBiologyArtificial intelligenceMutationGeneGenotype

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Publication Info

Year: 2011
Type: article
Volume: 27
Issue: 15
Pages: 2156-2158
Citations: 16294
Access: Closed

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APA Style

                            
                                
                                    Petr Danecek, 
                                
                                    Adam Auton, 
                                
                                    Gonçalo R. Abecasis
                                
                                et al.
                            
                            (2011). 
                            The variant call format and VCFtools. 
                            Bioinformatics
                            , 27
                            (15)
                            , 2156-2158.
                            https://doi.org/10.1093/bioinformatics/btr330
                        

Identifiers

DOI: 10.1093/bioinformatics/btr330