Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

ABSTRACT:

Background

To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES.

Methods

We performed comprehensive molecular testing in 168 unrelated Korean IRD patients using WES. The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility with known phenotypes or inheritance patterns.

Results

Causative variants were detected in 86/168 (51.2%) IRD patients, including 58/107 (54.2%) wit

SUBMITTER: Ma DJ 

PROVIDER: S-EPMC7945660 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature