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Article

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Bioinformatics (Oxford, England) - 1 Dec 2015

Vis Jonathan K, Vermaat Martijn, Taschner Peter E M, Kok Joost N, Laros Jeroen F J

Abstract excerpt

MOTIVATION: Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant sequence relative to a given reference sequence. We propose an efficient algorithm for the extraction of HGVS descriptions from two sequences with three main requirements in mind:...

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PMID: 26231427
DOI: 10.1093/bioinformatics/btv443

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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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