Article
Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2012
Davies Wayne I L, Downes Susan M, Fu Josephine K, Shanks Morag E, Copley Richard R, Lise Stefano, Ramsden Simon C, Black Graeme C M, Gibson Kate, Foster Russell G, Hankins Mark W, Németh Andrea H
Abstract excerpt
PURPOSE: The interpretation of genetic information has always been challenging, but next-generation sequencing produces data on such a vast scale that many more variants of uncertain pathogenicity will be found. We exemplify this issue with reference to human rhodopsin, in which pathogenic mutations can lead to autosomal dominant retinitis pigmentosa. METHODS: Rhodopsin variants, with unknown pathogenicity, were...
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