Article
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Scientific reports - 14 Sept 2016
Carrigan Matthew, Duignan Emma, Malone Conor P G, Stephenson Kirk, Saad Tahira, McDermott Ciara, Green Andrew, Keegan David, Humphries Peter, Kenna Paul F, Farrar G Jane
Abstract excerpt
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....
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