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Article

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

Human mutation - 1 Jun 2016

Tack Véronique, Deans Zandra C, Wolstenholme Nicola, Patton Simon, Dequeker Elisabeth M C

Abstract excerpt

The Human Genome Variation Society (HGVS) recommendations provide standardized nomenclature for reporting variants. This should be encouraged in molecular pathology-both for issuing diagnostic reports and for correct data recording in electronic databases. Many providers of external quality assessment (EQA) promote the correct use of HGVS nomenclature by scoring variant descriptions used in EQA reports. This...

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PMID: 26920083
DOI: 10.1002/humu.22975

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EGFR

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