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.