ArticleNPJ genomic medicine2021
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 155 papers, 4 of them syntheses that pooled it.
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The trial behind it
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Who cites it
155 citing papers in PubMed, 4 syntheses or guidelines pooled it, 259 citations in OpenAlex.
- Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.Human genomics · 2026Pooled it
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Shared genetic architectures of educational attainment in East Asian and European populations.Nature human behaviour · 2024Pooled it
- Prosaposin variants in sporadic, familial, and early-onset Parkinson's disease: a Taiwanese case-control study and meta-analysis.Scientific reports · 2024Pooled it
- Migraines and the association of cognitive impairment: a one- and two-sample mendelian randomization analysis.Dialogues in clinical neuroscience · 2026Article
- Clinical Implications of the Novel Genetic Polymorphism Associated With Retinal Vein Occlusion: The East Asian GWAS Survey in a Single-Center Taiwanese Cohort.Translational vision science & technology · 2026Article
- Female-Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital-Based Cohort Study From the Taiwan Precision Medicine Initiative.International forum of allergy & rhinology · 2026Article
- Beyond BMI: Genome-Wide Associations of Visceral Fat, Fat Mass, and Fat-Free Mass in Eastern Asian Populations.Obesity (Silver Spring, Md.) · 2026Article
- Association of the PROC rs146922325 variant with venous thrombosis in a Taiwanese population.Blood research · 2026Article
- A population-specific genomic reference panel for Taiwan: NHRI-RP-1.Journal of biomedical science · 2026Article
- Arrhythmia and cardiomyopathy risk in Taiwan with complementary biobank evidence on thyroid genetic susceptibility: an integrative population-based framework.Endocrine connections · 2026Article
- Effect ofBJPsych open · 2026Article
- Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.Molecular medicine (Cambridge, Mass.) · 2026Article
- An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Exploring Genetic Contributions to Prostate Cancer Risk in an Asian Population-Based Study.Cancer medicine · 2026Article
- Genetic polymorphisms associated with therapeutic response and adverse effects to methotrexate in Taiwanese patients with rheumatoid arthritis: a real-world, hospital-based study.Scientific reports · 2026Article
- Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry.Neurology. Genetics · 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
- Glucocorticoid Receptor Gene Polymorphisms and Femoral Head Osteonecrosis.Medicina (Kaunas, Lithuania) · 2026Article
- Genome-wide association analysis of treatment response to onabotulinumtoxinA in Han Chinese patients with chronic migraine: a pilot study.BMC neurology · 2026Article
95 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors at 3 institutions in 3 countries.
Funding
Abstract
Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from 1492 individuals and genome-wide SNP data from 103,106 individuals of Han Chinese ancestry using custom SNP arrays. Principal components analysis of the genotyping data showed that the full range of Han Chinese genetic variation was found in the cohort. The arrays also include thousands of known functional variants, allowing for simultaneous ascertainment of Mendelian disease-causing mutations and variants that affect drug metabolism. We found that 21.2% of the population are mutation carriers of autosomal recessive diseases, 3.1% have mutations in cancer-predisposing genes, and 87.3% carry variants that affect drug response. We highlight how TWB data provide insight into both population history and disease burden, while showing how widespread genetic testing can be used to improve clinical care.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.