ArticleScience advances2023
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Article in Science advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Resolving missing human polymorphic inversions and other complex variants from ultralong read data.Genome research · 2026Article
- Global GPR75 deficiency protects against diet-induced obesity through central and peripheral mechanisms.Molecular metabolism · 2026Article
- Rare variant optimized GWAS with functional validation identifies causal architecture of kidney function in East Asian population.Scientific reports · 2026Article
- A genome-wide interaction study of thyroid-stimulating hormone levels and particulate matter exposure among Koreans.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2026Article
- Gpr75 Deletion in Adipocytes Protects From Diet-Induced Obesity: Changes in Glucose Homeostasis and Inflammatory Responses.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.NPJ Parkinson's disease · 2026Article
- Characterization of Korean Colorectal Cancer Reveals Novel Driver Gene and Clinically Relevant Mutations.MedComm · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- ThemedRxiv : the preprint server for health sciences · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.Nature communications · 2024Article
- Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.Lipids in health and disease · 2024Article
- Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.Nature communications · 2024Article
- Imputation accuracy across global human populations.American journal of human genetics · 2024Article
- Review
- Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine.Pharmacogenomics and personalized medicine · 2024Review
- Imputation Accuracy Across Global Human Populations.bioRxiv : the preprint server for biology · 2023Article
- Machine learning models for pharmacogenomic variant effect predictions - recent developments and future frontiers.PharmacogenomicsReview
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Underrepresentation of non-European (EUR) populations hinders growth of global precision medicine. Resources such as imputation reference panels that match the study population are necessary to find low-frequency variants with substantial effects. We created a reference panel consisting of 14,393 whole-genome sequences including more than 11,000 Asian individuals. Genome-wide association studies were conducted using the reference panel and a population-specific genotype array of 72,298 subjects for eight phenotypes. This panel yields improved imputation accuracy of rare and low-frequency variants within East Asian populations compared with the largest reference panel. Thirty-nine previously unidentified associations were found, and more than half of the variants were East Asian specific. We discovered genes with rare protein-altering variants, including
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