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Abstract 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.
Abstract Objective This study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans. Methods In this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K).
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