Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

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 mutation...

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Bibliographic Details
Main Authors: Davies, W, Downes, S, Fu, J, Shanks, M, Copley, R, Lise, S, Ramsden, S, Black, G, Gibson, K, Foster, R, Hankins, M, Németh, A
Format: Journal article
Language:English
Published: 2012