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Article

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.

Bioinformatics (Oxford, England) - 15 Jan 2015

Hart Reece K, Rico Rudolph, Hare Emily, Garcia John, Westbrook Jody, Fusaro Vincent A

Abstract excerpt

UNLABELLED: Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society (HGVS). Despite the widespread use of the standard, no freely available and comprehensive programming libraries are available. Here we report an open-source and easy-to-use Python library...

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Identifiers

PMID: 25273102
DOI: 10.1093/bioinformatics/btu630
PMCID: PMC4287946

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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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