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

Wayne I. L. Davies | Zendy; Susan M. Downes | Zendy; Josephine K. Fu | Zendy; Morag Shanks | Zendy; Richard R. Copley | Zendy; Stefano Lise | Zendy; Simon Ramsden | Zendy; Graeme Black | Zendy; Kate Gibson | Zendy; F. Foster | Zendy; Mark W. Hankins | Zendy; Andrea H. Németh | Zendy

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

Author(s) -

Wayne I. L. Davies,

Susan M. Downes,

Josephine K. Fu,

Morag Shanks,

Richard R. Copley,

Stefano Lise,

Simon Ramsden,

Graeme Black,

Kate Gibson,

F. Foster,

Mark W. Hankins,

Andrea H. Németh

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.73

Subject(s) - rhodopsin , biology , sanger sequencing , retinitis pigmentosa , genetics , dna sequencing , computational biology , bioinformatics , gene , retinal , biochemistry

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.

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