Article
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American journal of human genetics - 5 Jan 2017
Carss Keren J, Arno Gavin, Erwood Marie, Stephens Jonathan, Sanchis-Juan Alba, Hull Sarah, Megy Karyn, Grozeva Detelina, Dewhurst Eleanor, Malka Samantha, Plagnol Vincent, Penkett Christopher, Stirrups Kathleen, Rizzo Roberta, Wright Genevieve, Josifova Dragana, Bitner-Glindzicz Maria, Scott Richard H, Clement Emma, Allen Louise, Armstrong Ruth, Brady Angela F, Carmichael Jenny, Chitre Manali, Henderson Robert H H, Hurst Jane, MacLaren Robert E, Murphy Elaine, Paterson Joan, Rosser Elisabeth, Thompson Dorothy A, Wakeling Emma, Ouwehand Willem H, Michaelides Michel, Moore Anthony T, Webster Andrew R, Raymond F Lucy
Abstract excerpt
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic...
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