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Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.

Current protocols in human genetics - 1 Jul 2016

den Dunnen Johan T

Abstract excerpt

Consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome, in particular in DNA diagnostics. The HGVS nomenclature-recommendations for the description of sequence variants as originally proposed by the Human Genome Variation Society-has gradually been accepted as the international standard for variant description. In this unit, we...

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PMID: 27367167
DOI: 10.1002/cphg.2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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