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

• Main Authors: Dae Joong Ma (Author), Hyun-Seob Lee (Author), Kwangsoo Kim (Author), Seongmin Choi (Author), Insoon Jang (Author), Seo-Ho Cho (Author), Chang Ki Yoon (Author), Eun Kyoung Lee (Author), Hyeong Gon Yu (Author)
• Format: Book
• Published: BMC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 comprehensi...