ArticleFrontiers in genetics2022
Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population.
Article in Frontiers in genetics, 2022. 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.
- Genetic Susceptibility to NSAID-Related Gastrointestinal Adverse Events in Korean Patients: An Exploratory Genome-Wide Association Study.Journal of clinical medicine · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes.American journal of human genetics · 2026Article
- Genome-wide association study of quantitative ocular traits, including axial length and central corneal thickness, identifies loci for refractive error in the Korean population.Genes & genomics · 2026Article
- Advances in haplotype phasing and genotype imputation.Nature reviews. Genetics · 2026Review
- Genome-based medicine in Korea: the Korea National Institute of Health infrastructure for precision medicine.Childhood kidney diseases · 2026Review
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- A machine learning framework for classifying dementia risk in mild cognitive impairment: evidence from a Korean genome-wide association study cohort.Alzheimer's research & therapy · 2025Article
- Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Effects of Genetic Risk and Lifestyle Habits on Gout: A Korean Cohort Study.Journal of Korean medical science · 2025Article
- Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.Communications biology · 2024Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
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5 authors.
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Abstract
Genotype imputation is essential for enhancing the power of association-mapping and discovering rare and indels that are missed by most genotyping arrays. Imputation analysis can be more accurate with a population-specific reference panel or a multi-ethnic reference panel with numerous samples. The National Institute of Health, Republic of Korea, initiated the Korean Reference Genome (KRG) project to identify variants in whole-genome sequences of ∼20,000 Korean participants. In the pilot phase, we analyzed the data from 1,490 participants. The genetic characteristics and imputation performance of the KRG were compared with those of the 1,000 Genomes Project Phase 3, GenomeAsia 100K Project, ChinaMAP, NARD, and TOPMed reference panels. For comparison analysis, genotype panels were artificially generated using whole-genome sequencing data from combinations of four different ancestries (Korean, Japanese, Chinese, and European) and two population-specific optimized microarrays (Korea Biobank Array and UK Biobank Array). The KRG reference panel performed best for the Korean population (
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