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HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Human mutation - 1 Jun 2016

den Dunnen Johan T, Dalgleish Raymond, Maglott Donna R, Hart Reece K, Greenblatt Marc S, McGowan-Jordan Jean, Roux Anne-Francoise, Smith Timothy, Antonarakis Stylianos E, Taschner Peter E M

Abstract excerpt

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an...

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PMID: 26931183
DOI: 10.1002/humu.22981

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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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