Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

doi:10.1126/sciadv.adt0539

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Article

Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Science advances - 6 Jun 2025

Liu Ting-Yuan, Lu Hsing-Fang, Chen Yu-Chia, Liao Chi-Chou, Lin Ying-Ju, Yang Jai-Sing, Liao Wen-Ling, Lin Wei-De, Chen Shih-Yin, Huang Yu-Chuen, Lin Wei-Yong, Liu Yu-Huei, Hsu Kai-Cheng, Chang Shih-Sheng, Chen Hong-Da, Chou Yu-Pao, Chang Jan-Gowth, Wang Chung-Hsing, Chang Chwen-Tzuei, Huang Chung-Ming, Yeo Kai-Jieh, Wang Tzu-Yuan, Yeh Chin-Chung, Chen Jiunn-Horng, Huang Chi-Ping, Lai Hsueh-Chou, Chen Rong-Hsing, Lin Hui-Ju, Wu Po-Yuan, Wang Jiu-Yao, Kuo Chin-Chi, Cho Der-Yang, Tsai Chang-Hai, Tsai Fuu-Jen

Abstract excerpt

We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among...

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PMID: 40465716
DOI: 10.1126/sciadv.adt0539
PMCID: PMC12136033

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