ArticleScience advances2025
Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
Article in Science advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
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- Gain of function NOTCH4 variants disrupt angiogenesis in systemic sclerosis.Annals of the rheumatic diseases · 2026Article
- Bidirectional Mendelian randomization of leukocyte counts, renal function, and Lipocalin-2 Levels: disentangling the genetic links, causal pathways and cardiovascular outcomes.Journal of human genetics · 2026Article
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- Unravelling the molecular mechanisms causal to type 2 diabetes across global populations and disease-relevant tissues.Nature metabolism · 2026Article
- Impacts of DNA ligase I genotypes on Taiwan Parkinson's disease.BioMedicine · 2026Article
- Evaluation of population-specific polygenic risk scores for blood lipids: insights from Taiwanese cohorts and multiancestry meta-analysis.Frontiers in bioinformatics · 2026Article
- Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.Molecular genetics & genomic medicine · 2026Article
- Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk.International journal of molecular sciences · 2025Article
- Polygenic risk score for predicting diabetic retinopathy in patients with type 2 diabetes: A twenty-year follow-up study.World journal of diabetes · 2025Article
- Effects of theGenes · 2025Article
- Pathway insights and predictive modeling for type 2 diabetes using polygenic risk scores.Scientific reports · 2025Article
- Polygenic risk scores of fasting insulin and insulin-related traits in a Taiwanese Han population.Cell & bioscience · 2025Article
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Authors and funding
34 authors.
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Abstract
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 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice supports early risk prediction and personalized prevention. To further expand translational value, we also conducted pharmacogenomic analysis and human leukocyte antigen typing. HiGenome offers a large-scale genetic and clinical dataset from the Taiwanese Han population, supporting population-specific analyses and precision medicine development in East Asia. The hospital-based design enables continuous follow-up and longitudinal data expansion.
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