High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

ABSTRACT: Retinal dystrophies (RD) are clinically and genetically heterogenous disorders showing mutations in over 270 disease-associated genes. Several millions of people worldwide are affected with different types of RD. Studying the relevance of disease-associated sequence alterations will assist in understanding disorders and may lead to the development of therapeutic approaches. Here, we established a whole exome sequencing (WES) pipeline to rapidly identify disease-associated mutations in patients. Sanger sequencing was applied to identify deep-intronic variants and to verify the co-segregation of WES results within families. We analyzed 26 unrelated patients with different syndromic and non-syndromic clinical manifestations of RD. All patients underwent ophthalmic examinations. We identified

SUBMITTER: Song F 

PROVIDER: S-EPMC8391535 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature