Ontology highlight
ABSTRACT:
SUBMITTER: Carss KJ
PROVIDER: S-EPMC5223092 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Carss Keren J KJ Arno Gavin G Erwood Marie M Stephens Jonathan J Sanchis-Juan Alba A Hull Sarah S Megy Karyn K Grozeva Detelina D Dewhurst Eleanor E Malka Samantha S Plagnol Vincent V Penkett Christopher C Stirrups Kathleen K Rizzo Roberta R Wright Genevieve G Josifova Dragana D Bitner-Glindzicz Maria M Scott Richard H RH Clement Emma E Allen Louise L Armstrong Ruth R Brady Angela F AF Carmichael Jenny J Chitre Manali M Henderson Robert H H RHH Hurst Jane J MacLaren Robert E RE Murphy Elaine E Paterson Joan J Rosser Elisabeth E Thompson Dorothy A DA Wakeling Emma E Ouwehand Willem H WH Michaelides Michel M Moore Anthony T AT Webster Andrew R AR Raymond F Lucy FL
American journal of human genetics 20161229 1
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 variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) i ...[more]