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Bioinformatics
Article . 2015 . Peer-reviewed
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Bioinformatics
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Bioinformatics
Article . 2015
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Unified representation of genetic variants

Authors: Adrian Tan; Gonçalo R. Abecasis; Hyun Min Kang;

Unified representation of genetic variants

Abstract

Abstract Summary: A genetic variant can be represented in the Variant Call Format (VCF) in multiple different ways. Inconsistent representation of variants between variant callers and analyses will magnify discrepancies between them and complicate variant filtering and duplicate removal. We present a software tool vt normalize that normalizes representation of genetic variants in the VCF. We formally define variant normalization as the consistent representation of genetic variants in an unambiguous and concise way and derive a simple general algorithm to enforce it. We demonstrate the inconsistent representation of variants across existing sequence analysis tools and show that our tool facilitates integration of diverse variant types and call sets. Availability and implementation: The source code is available for download at http://github.com/atks/vt. More detailed documentation is available at http://genome.sph.umich.edu/wiki/Variant_Normalization. Contact: hmkang@umich.edu Supplementary information: Supplementary data are available at Bioinformatics online.

Related Organizations
Keywords

Genome, Human, Genetic Variation, Humans, Programming Languages, Algorithms, Software

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    selected citations
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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
356
Top 0.1%
Top 1%
Top 1%
gold