ArticleJournal of advanced research2021
Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.
Article in Journal of advanced research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.iScience · 2025Article
- Emerging multifaceted roles of the microbiome in cancer susceptibility.World journal of clinical oncology · 2025Review
- Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.Communications biology · 2024Article
- Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.Journal of advanced research · 2024Article
- Blood L-cystine levels positively related to increased risk of hypertension.Journal of clinical hypertension (Greenwich, Conn.) · 2024Article
- Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.Life science alliance · 2023Article
- Differential Effects ofGenes · 2023Article
- Cancer carrier screening in the general population using whole-genome sequencing.Cancer medicine · 2023Article
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
- Pleiotropic Effects ofInternational journal of molecular sciences · 2022Article
- Taiwan Biobank: A rich biomedical research database of the Taiwanese population.Cell genomics · 2022Article
- A HANC Risk Stratification Score for Antiplatelet Therapy Optimization with Low-Dose Prasugrel in Taiwanese Acute Coronary Syndrome Patients from the Switch Study.Acta Cardiologica Sinica · 2022Article
- Editorial: Current Status and Future Challenges of Biobank Data Analysis.Frontiers in genetics · 2022Article
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: A population-specific genomic reference is important for research and clinical practice, yet it remains unavailable for Han Chinese (HC) in Taiwan. Objectives: We report the first whole genome sequencing (WGS) database of HC (1000 Taiwanese genome (1KTW-WGS)) and demonstrate several applications to cardiovascular medicine. Methods: Whole genomes of 997 HC were sequenced to at least 30X depth. A total of 20,117 relatively healthy HC individuals were genotyped using a customized Axiom GWAS array. We performed a genome-wide genotype imputation technique using IMPUTE2. Results: We identified 26.7 million single-nucleotide variants (SNVs) and 4.2 million insertions-deletions. Of the SNVs, 16.1% were novel relative to dbSNP (build 152), and 34.2% were novel relative to gnomAD. A total of 18,450 healthy HC individuals were genotyped using a customized Genome-Wide Association Study (GWAS) array. We identified hypertension-associated variants and developed a hypertension prediction model based on the correlation between the WGS data and GWAS data (combined clinical and genetic models, AUC 0.887), and also identified 3 novel hyperlipidemia-associated variants. Each individual carried an average of 16.42 (SD = 3.72) disease-causing variants. Additionally, we established an online Conclusion: This research demonstrates the benefits of constructing a population-specific genomic reference database for precision medicine.
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