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Article

Improved VCF normalization for accurate VCF comparison.

Bioinformatics (Oxford, England) - 1 Apr 2017

Bayat Arash, Gaëta Bruno, Ignjatovic Aleksandar, Parameswaran Sri

Abstract excerpt

MOTIVATION: The Variant Call Format (VCF) is widely used to store data about genetic variation. Variant calling workflows detect potential variants in large numbers of short sequence reads generated by DNA sequencing and report them in VCF format. To evaluate the accuracy of variant callers, it is critical to correctly compare their output against a reference VCF file containing a gold standard set of variants....

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PMID: 27993787
DOI: 10.1093/bioinformatics/btw748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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