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Can I read Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration on EtoBox?
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration by Dae Joong Ma; Hyun-Seob Lee; Kwangsoo Kim; Seongmin Choi; Insoon Jang; Seo-Ho Cho; Chang Ki Yoon; Eun Kyoung Lee; Hyeong Gon Yu is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration about?
## 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%) with retinitis pigmentosa, 7/15 (46.7%) with cone and cone-rod dystrophy, 2/3 (66.6%) with Usher syndrome, 1/2 (50.0%) with congenital stationary night blindness, 2/2 (100.0%) with Leber congenital amaurosis, 1/1 (100.0%) with Bietti crystalline dystrophy, 1/1 (100.0%) with Joubert syndrome, 9/10 (90.0%) with Stargardt macular dystrophy, 1/10 (10.0%) with vitelliform macular dystrophy, 1/11 (9.1%) wit
Who reads Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Dae Joong Ma; Hyun-Seob Lee; Kwangsoo Kim; Seongmin Choi; Insoon Jang; Seo-Ho Cho; Chang Ki Yoon; Eun Kyoung Lee; Hyeong Gon Yu
- Publisher
- Springer Science and Business Media LLC
- Published
- 2021
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)