Lee, Hyeji
Ko, Kahee
Kim, Seoyeon
Lee, Ganghee
Kim, Soowhee
Lee, Jihae
Song, Da-Yea
Bong, Guiyoung
Han, Jae Hyun
Lee, Jeewon
Kim, Ye Rim
Lee, Yoojeong
Kim, Eunjoon
Børglum, Anders D.
Grove, Jakob
Kim, So Hyun
Sun, Woong
Yoo, Hee Jeong
An, Joon-Yong
Funding for this research was provided by:
The National Research Foundation of Korea (RS-2024-00411597)
The National Research Foundation of Korea (RS-2023-00209635)
The National Research Foundation of Korea (RS-2021-NR058507)
The National Research Foundation of Korea (NRF-2021M3E5D9021878)
The National Research Foundation of Korea (RS-2025-16652968)
Institute for Basic Science (IBS-R002-D1)
Lundbeck Foundation (R102-A9118)
National Institutes of Health (1R01NS131433-01)
Korea University Research Grant (K2420391)
Article History
Received: 14 May 2025
Accepted: 11 March 2026
First Online: 23 March 2026
Declarations
:
: This study employed a multi-ancestry cohort design, combining WGS and WES data from 4 cohorts: Korean ASD cohorts, SSC, SPARK, and KoGES. Korean ASD cohorts were recruited from two major medical institutions in Korea: Seoul National University Bundang Hospital (SNUBH) and Soon Chun Hyang University Hospital Bucheon (SCHBC). Ethical approval for all participants was obtained from the Institutional Review Boards of SNUBH (B-1703–388–303 and B-2108–700–107) and SCHBC (SCHBC 2018–04–020 and SCHBC 2022–04–016). The study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki, and informed consent was obtained from all participants. All other human sequencing and phenotype data used in this study were derived from publicly available datasets, including SSC, SPARK, and KoGES.
: Not applicable.
: Dr Børglum reported speaking fees from Lundbeck outside the submitted work. The remaining authors declare no competing interests.