Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Seungbok Lee
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Go Hun Seo
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Soo Yeon Kim
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Se Song Jang
raw_affiliation_strings: 3billion Inc., Seoul, Korea
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Seoyun Jang
raw_affiliation_strings: 3billion Inc., Seoul, Korea
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Songji Choi
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
raw_author_name: Hyungjin Chin
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
raw_author_name: Seung Jae Lee
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Dong Eon Oh
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
raw_author_name: Seung Woo Ryu
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Jihye Kim
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Dongseok Moon
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Seokhui Jang
raw_affiliation_strings: 3billion Inc., Seoul, Korea
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Byung Chan Lim
raw_affiliation_strings: Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea
raw_author_name: Jangsup Moon
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea
Department of Neurology, Seoul National University Hospital, Seoul, Korea
raw_author_name: Heonjong Han
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Hane Lee
raw_affiliation_strings: 3billion Inc., Seoul, Korea
raw_author_name: Jong-Hee Chae
raw_affiliation_strings: Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea. chaeped1@snu.ac.kr
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea. chaeped1@snu.ac.kr