Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
European journal of human genetics : EJHG - 1 Mar 2013
Shanks Morag E, Downes Susan M, Copley Richard R, Lise Stefano, Broxholme John, Hudspith Karl Az, Kwasniewska Alexandra, Davies Wayne Il, Hankins Mark W, Packham Emily R, Clouston Penny, Seller Anneke, Wilkie Andrew Om, Taylor Jenny C, Ragoussis Jiannis, Németh Andrea H
Abstract excerpt
Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ∼1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing. We investigated targeted capture combined with next-generation sequencing using Nimblegen 12plex arrays and the Roche 454 sequencing platform to explore its potential for clinical...
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