ArticleScience advances2024
Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.
Article in Science advances, 2024. 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, 18 citations in OpenAlex.
- Popformer: Learning general signatures of positive selection with a self-supervised transformer.PLoS computational biology · 2026Article
- Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population.Journal of human genetics · 2026Article
- Popformer: Learning general signatures of positive selection with a self-supervised transformer.bioRxiv : the preprint server for biology · 2026Article
- Recent advances in methods to characterize archaic introgression in modern humans.Genome research · 2026Review
- Plasma proteome-wide Mendelian randomization reveals multi-ancestry drug targets for gastric cancer.Frontiers in oncology · 2026Article
- Genetic diversity and association analysis between agronomic traits and EST-SSR markers in Chinese chive (Frontiers in plant science · 2026Article
- Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease.Nature aging · 2025Article
- Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning.Human genomics · 2025Article
- Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases.Scientific reports · 2025Article
- Article
- Fine-scale population structure of JapaneseMicrobial genomics · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population.Scientific reports · 2025Article
- East Asian Gene flow bridged by northern coastal populations over past 6000 years.Nature communications · 2025Article
- Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025Review
- Refinement of Poultry Standing in Japan Based on Recent Anthropo-ornithological Perspectives.The journal of poultry science · 2025Review
- Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago.Journal of human genetics · 2025Article
- Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.Communications biology · 2024Article
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Authors and funding
19 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We generated Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library (JEWEL), a high-depth whole-genome sequencing dataset comprising 3256 individuals from across Japan. Analysis of JEWEL revealed genetic characteristics of the Japanese population that were not discernible using microarray data. First, rare variant-based analysis revealed an unprecedented fine-scale genetic structure. Together with population genetics analysis, the present-day Japanese can be decomposed into three ancestral components. Second, we identified unreported loss-of-function (LoF) variants and observed that for specific genes, LoF variants appeared to be restricted to a more limited set of transcripts than would be expected by chance, with
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.