Ontology highlight
ABSTRACT:
SUBMITTER: Fadaie Z
PROVIDER: S-EPMC8602293 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Fadaie Zeinab Z Whelan Laura L Ben-Yosef Tamar T Dockery Adrian A Corradi Zelia Z Gilissen Christian C Haer-Wigman Lonneke L Corominas Jordi J Astuti Galuh D N GDN de Rooij Laura L van den Born L Ingeborgh LI Klaver Caroline C W CCW Hoyng Carel B CB Wynne Niamh N Duignan Emma S ES Kenna Paul F PF Cremers Frans P M FPM Farrar G Jane GJ Roosing Susanne S
NPJ genomic medicine 20211118 1
Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30-40% of cases remain genetically unexplained following conventional genetic testing, we aimed to obtain a genetic diagnosis in an IRD cohort in which the genetic cause was not found using whole-exome sequencing or targeted capture sequencing. We performed whole-genome sequencing (WGS) to identify causative variants in 10 ...[more]