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Whole exome sequencing (WES) and inherited retinal degenerations.

WES continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders.

Gearoid Tuohy

Posted: Tuesday, August 15, 2017


Research results reported by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, have shown that whole exome sequencing (WES) continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders. The Spanish research group worked on a cohort of 33 families with a variety of retinal disorders and used WES to define a genetic diagnosis in 18 families while proposing a viable candidate gene in a further 10 cases.
http://brief.euretina.org/bio-ophthalmology/whole-exome-sequencing-wes-continues-to-yield-significant-efficiencies-in-clinical-identification-of-inherited-retinal-degenerations-2