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Article

Unified representation of genetic variants.

Bioinformatics (Oxford, England) - 1 Jul 2015

Tan Adrian, Abecasis Gonçalo R, Kang Hyun Min

Abstract excerpt

UNLABELLED: 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...

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Identifiers

PMID: 25701572
DOI: 10.1093/bioinformatics/btv112
PMCID: PMC4481842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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