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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

Human mutation - 1 Jan 2018

Freeman Peter J, Hart Reece K, Gretton Liam J, Brookes Anthony J, Dalgleish Raymond

Abstract excerpt

The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open-source hgvs Python package (https://github.com/biocommons/hgvs) provides a programmatic interface for parsing,...

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PMID: 28967166
DOI: 10.1002/humu.23348
PMCID: PMC5765404

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Source receipt: pubmed, retrieved 7 Sept 2026.

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