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Describing structural changes by extending HGVS sequence variation nomenclature.

Human mutation - 1 May 2011

Taschner Peter E M, den Dunnen Johan T

Abstract excerpt

New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS, http://www.hgvs.org/mutnomen), because this mainly focuses on simple variants. Here, we suggest several extensions of the HGVS...

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PMID: 21309030
DOI: 10.1002/humu.21427

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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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