ArticlePLoS genetics2023
Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis.
Article in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Jomon genomics reveal cold adaptation in Upper Paleolithic hunter-gatherers of eastern Eurasia.Science advances · 2026Article
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.Neurogenetics · 2026Article
- Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants.Journal of human genetics · 2026Article
- Japanese genomes for pharmacogenomics: primary and secondary pipelines for population-specific insights.Frontiers in bioinformatics · 2026Article
- A practical framework for predicting splicing single nucleotide variants in exome sequencing.NAR genomics and bioinformatics · 2025Article
- Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer.NPJ breast cancer · 2025Article
- Vanishing White Matter Disease WithNeurology. Genetics · 2025Article
- Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.NPJ genomic medicine · 2025Article
- Mosaic deletions detected by genome sequencing in two families.Journal of human genetics · 2025Article
- Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.Journal of human genetics · 2024Article
- Article
- Machine learning-based reproducible prediction of type 2 diabetes subtypes.Diabetologia · 2024Article
- Genetic diversity among the present Japanese population: evidence from genotyping of human cell lines established in Japan.Human cell · 2024Article
- Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.Nature genetics · 2024Article
- Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.Science advances · 2024Article
- A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.BMC neurology · 2024Article
- Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.NPJ genomic medicine · 2024Article
- Large-Scale Whole-Genome Analysis of HTLV-1-Associated Myelopathy Identified Hereditary Spastic Paraplegias.Neurology. Genetics · 2024Article
- A homozygous structural variant ofGenetics in medicine open · 2024Article
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Authors and funding
32 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Japanese archipelago is a terminal location for human migration, and the contemporary Japanese people represent a unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. We analyzed the genomic characteristics that define the genetic makeup of the modern Japanese population from a population genetics perspective from the genomic data of 9,287 samples obtained by high-coverage whole-genome sequencing (WGS) by the National Center Biobank Network. The dataset comprised populations from the Ryukyu Islands and other parts of the Japanese archipelago (Hondo). The Hondo population underwent two episodes of population decline during the Jomon period, corresponding to the Late Neolithic, and the Edo period, corresponding to the Early Modern era, while the Ryukyu population experienced a population decline during the shell midden period of the Late Neolithic in this region. Haplotype analysis suggested increased allele frequencies for genes related to alcohol and fatty acid metabolism, which were reported as loci that had experienced positive natural selection. Two genes related to alcohol metabolism were found to be 12,500 years out of phase with the time when they began to increase in the allele frequency; this finding indicates that the genomic diversity of Japanese people has been shaped by events closely related to agriculture and food production.
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