Genomic and phenotypic characterization of the Jeju Genome Project cohort in Korea
The Jeju Genome Project (JGP) is a genomic and phenotypic cohort established to provide a comprehensive resource for precision medicine on Jeju Island, South Korea. JGP integrates whole-genome sequencing (WGS), customized genotyping arrays, and detailed clinical and lifestyle phenotyping to characterize population-specific genetic architecture, disease determinants, and risk profiles among participants recruited on Jeju Island. The study enrolled 5307 participants, comprising 2999 community-based and 2308 hospital-based participants enriched for neurological, malignant, rheumatic, and ophthalmological disorders, reflecting the real-world disease burden in an aging population. Biospecimens, including blood and stool samples, were collected using standardized protocols and biobanked for planned molecular analyses. WGS and genotyping array data were available for 3466 and 3002 participants, respectively, with both sources available for 1161 participants. By enabling the discovery of population-relevant genetic variants and supporting the development of polygenic risk scores and individualized prediction models, JGP provides a scalable framework for region-specific precision health strategies, facilitating risk stratification, early disease detection, and targeted prevention in Jeju Island and East Asian populations.
Authors
- Yun Sung Cho (ORCID: https://orcid.org/0000-0003-4490-8769)
- Sunghwan Ji (ORCID: https://orcid.org/0000-0002-8150-933X)
- J. Cho
- Jin‐Deok Joo (ORCID: https://orcid.org/0000-0002-0728-3336)
- JeHoon Jun (ORCID: https://orcid.org/0000-0002-6558-1091)
- Jinseok Kim (ORCID: https://orcid.org/0000-0002-7183-2395)
- S. Byun
- Angela Cho (ORCID: https://orcid.org/0000-0002-6793-6626)
- Jung‐Sik Huh (ORCID: https://orcid.org/0000-0003-2767-4390)
- Jaemin Jo (ORCID: https://orcid.org/0000-0002-2145-9721)
- Wooseong Jeong (ORCID: https://orcid.org/0000-0002-7811-7116)
- Chang Lim Hyun (ORCID: https://orcid.org/0000-0002-6740-1357)
- Chul‐Hoo Kang (ORCID: https://orcid.org/0000-0002-4176-0941)
- Byeongzu Ghang (ORCID: https://orcid.org/0000-0001-7284-4964)
- Jin Lee (ORCID: https://orcid.org/0000-0003-2404-385X)
- Seung Hyun Lee (ORCID: https://orcid.org/0000-0001-6710-9383)
- Chul Min Park (ORCID: https://orcid.org/0000-0002-9707-2216)
- Jong-Eun Park (ORCID: https://orcid.org/0000-0002-1687-2423)
- Ki Tae Nam (ORCID: https://orcid.org/0000-0003-1377-4294)
- Ji Eun Park
- Nayoung Han
- Jaeseong Oh (ORCID: https://orcid.org/0000-0001-6275-8587)
- Jung-Hwan Oh
- Jung Seok Lee
- Young Ree Kim
- Jay Chol Choi
- Suk Won Chang
- Hyeon Ju Kim
- Han-Na Kim
- Mincheol Kim
- You Seak Go
- Sungbong Kang
- Joong-Goo Kim
- Meihong Jin
- Sanghoon Lee
- Jieun Yang
Institutions
- Seoul National University Bundang Hospital (KR)
- Jeju National University Hospital (KR)
- Jeju National University (KR)
- Sungkyunkwan University (KR)
Publication Details
- Journal
- Scientific Reports
- Published
- 2026-10-27
- DOI
- https://doi.org/10.1038/s41598-026-77032-4
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Korea Health Industry Development Institute