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Article

Reporting practices for variants of uncertain significance from next generation sequencing technologies.

European journal of medical genetics - 1 Oct 2017

Vears Danya F, Sénécal Karine, Borry Pascal

Abstract excerpt

The nature of next generation sequencing technologies (NGS) results in the generation of large amounts of data and the identification of numerous variants, for some of which the clinical significance may be difficult to ascertain based on our current knowledge. These Variants of Uncertain Significance (VUS) may be identified in genes in which the function is known or unknown and which may or may not be related to...

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PMID: 28774848
DOI: 10.1016/j.ejmg.2017.07.016

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