Journal Article


G Jane Farrar
Paul F Kenna
David Keegan
Andrew Green
Ciara McDermott
Tahira Saad
Kirk Stephenson
Conor P G Malone
Emma Duignan
Peter Humphries
and 1 others


Medicine & Nursing

next generation sequencing people population detection panel retinitis pigmentosa patients genes retinal diseases disease geneticsgenetic testingnext generation sequencingretinal diseases

Panel-Based population next-generation sequencing for inherited retinal degenerations (2016)

Abstract Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these conditions. We present results from a next-generation sequencing study of a large inherited retinal disease patient population, with the goal of providing clear and actionable genetic diagnoses. Targeted sequencing was performed on 539 individuals from 309 inherited retinal disease pedigrees. Causative mutations were identified in the majority (57%, 176/309) of pedigrees. We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa. Population statistics reporting the genes most commonly implicated in retinal disease in the cohort are presented, as are some diagnostic conundrums that can arise during such studies. Inherited retinal diseases represent an exemplar group of disorders for the application of panel-based next-generation sequencing as an effective tool for detection of causative mutations.
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Full list of authors on original publication

G Jane Farrar, Paul F Kenna, David Keegan, Andrew Green, Ciara McDermott, Tahira Saad, Kirk Stephenson, Conor P G Malone, Emma Duignan, Peter Humphries and 1 others

Experts in our system

G Jane Farrar
Trinity College Dublin
Total Publications: 64
Paul F Kenna
Trinity College Dublin
Total Publications: 62
Andrew Green
University College Dublin
Total Publications: 25
Peter Humphries
Trinity College Dublin
Total Publications: 83