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Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

著者 Oetting WS , Brenner SE , Brookes AJ , Greenblatt MS , Hart RK , Karchin R , Sunyaev SR , Taschner PE
Hum Mutat.2016 Jan 21 ; ():.
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There is now a convergence of two modes of genetic testing, that of testing a few candidate genes at a time based on suspicion of a specific genetic disease, and that of genomic testing, especially when a candidate gene(s) is not suspected or known. Both aim to interpret pathogenicity of identified genetic variants. The 2015 annual scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 6th of October in Baltimore, MD, with the theme of "Pathogenicity Interpretation in the Age of Precision Medicine". The HGVS is focusing attention on advancing the field of variant interpretation. Progress will require both new developments in analytical methods (in vitro, in silico, statistical, and other methods) and cooperation amongst scientific, clinical, and regulatory participants in developing and maintaining standards for all areas of pathogenicity assessment, variant nomenclature and annotation. This year's meeting covered all of these areas. This article is protected by copyright. All rights reserved.
PMID: 26791113 [PubMed - as supplied by publisher]
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