Variant Call Format: Difference between revisions
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Revision as of 18:43, 21 April 2011
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The Variant Call Format (VCF) is a specification for storing gene sequence variations. The format has been developed with the advent of large-scale genotyping and gene sequencing projects, such as the 1000 Genomes Project. Existing formats for genetic data, such as GFF stored all of the genetic data, much of which is redundant because it will be shared across the genomes. By using the variant call format only the variations need to be stored along with a reference genome.
The standard is currently in version 4.0,[1][2] although the 1000 genomes project has developed their own specification for structural variations such as duplications, which are not easily accommodated into the existing schema.[3] A set of tools are also available for editing and manipulating the files[4].
References
- ^ "VCF Specification". Retrieved 1 February 2011.
- ^ "VCF (Variant Call Format) version 4.0 | 1000 Genomes". Retrieved 1 February 2011.
- ^ "Encoding Structural Variants in VCF (Variant Call Format) version 4.0 | 1000 Genomes". Retrieved 1 February 2011.
- ^ "VCFtools from SourceForge.net". Retrieved 21 April 2011.
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