ArticleBioMedicine2021
Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank.
Article in BioMedicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Identification of 13 Novel Loci in a Genome-Wide Association Study on Taiwanese with Hepatocellular Carcinoma.International journal of molecular sciences · 2023Pooled it
- Progressive conduction system disease preceding hypertrophy in IVS4+919G>A Fabry variant: a population-based electrocardiographic study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
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- Local Enrichment of Multi-SNP Markers Improves Genomic Prediction from Low-Density Genotyping in Pacific White Shrimp.International journal of molecular sciences · 2026Article
- Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study.PLoS genetics · 2026Article
- Evaluation of population-specific polygenic risk scores for blood lipids: insights from Taiwanese cohorts and multiancestry meta-analysis.Frontiers in bioinformatics · 2026Article
- Article
- Polygenic risk score as a tool to predict gestational weight gain and gestational diabetes among pregnant women in Taiwan.Journal of human genetics · 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
- 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
- Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.Science advances · 2025Article
- Mini-review of clinical data service platforms in the era of artificial intelligence: A case study of the iHi data platform.BioMedicine · 2025Review
- Genome-wide association study and polygenic risk scores of eosinophilia in Taiwan.Clinical & translational immunology · 2025Article
- Impact of polygenic risk score for triglyceride trajectory and diabetic complications in subjects with type 2 diabetes based on large electronic medical record data from Taiwan: a case control study.Journal of endocrinological investigation · 2024Article
- Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study.Journal of human genetics · 2024Article
- Identification of the efficacy of parentage testing based on bi-allelic autosomal single nucleotide polymorphism markers in Taiwanese population.Forensic science, medicine, and pathology · 2024Article
- Developing a Polygenic Risk Score with Age and Sex to Identify High-Risk Myopia in Taiwan.Biomedicines · 2024Article
- Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan.Molecular medicine reports · 2024Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A genome-wide association study (GWAS) can be conducted to systematically analyze the contributions of genetic factors to a wide variety of complex diseases. Nevertheless, existing GWASs have provided highly ethnic specific data. Accordingly, to provide data specific to Taiwan, we established a large-scale genetic database in a single medical institution at the China Medical University Hospital. With current technological limitations, microarray analysis can detect only a limited number of single-nucleotide polymorphisms (SNPs) with a minor allele frequency of >1%. Nevertheless, imputation represents a useful alternative means of expanding data. In this study, we compared four imputation algorithms in terms of various metrics. We observed that among the compared algorithms, Beagle5.2 achieved the fastest calculation speed, smallest storage space, highest specificity, and highest number of high-quality variants. We obtained 15,277,414 high-quality variants in 175,871 people by using Beagle5.2. In our internal verification process, Beagle5.2 exhibited an accuracy rate of up to 98.75%. We also conducted external verification. Our imputed variants had a 79.91% mapping rate and 90.41% accuracy. These results will be combined with clinical data in future research. We have made the results available for researchers to use in formulating imputation algorithms, in addition to establishing a complete SNP database for GWAS and PRS researchers. We believe that these data can help improve overall medical capabilities, particularly precision medicine, in Taiwan.
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