ArticleMolecular biology and evolution2018
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese.
Article in Molecular biology and evolution, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.Human genomics · 2026Pooled it
- Trial
- Genetic structure and admixture of the Yi and Qiang in southwestern China.Journal of Zhejiang University. Science. B · 2026Article
- Paternal genetic structure and Y-chromosomal haplogroup prediction in the Tujia and Bai ethnic groups of Guizhou, Western China.BMC genomics · 2026Article
- Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Guangdong Biobank Cohort (GDBC) study.European journal of epidemiology · 2026Article
- Global patterns of natural selection inferred using ancient DNA.bioRxiv : the preprint server for biology · 2026Article
- Divergent Eurasian ancestry and local adaptation shape the genetic landscapes of the Yugur and Uyghur.Briefings in bioinformatics · 2026Article
- FRAME: fast reference-based ancestry makeup estimation tool.Bioinformatics advances · 2026Article
- YanHuang Paternal Genomic Resource Suggests A Weakly-differentiated Multi-source Admixture in the Formation of Han Founding Ancestral Lineages.Genomics, proteomics & bioinformatics · 2025Article
- Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.International journal of neonatal screening · 2025Review
- Cross-continental transmission and host adaptation ofiMetaOmics · 2025Article
- The epidemiology and disease economic burden of osteoarticular tuberculosis in hospitalized children in China: a nationwide cross-sectional retrospective study.BMC infectious diseases · 2025Article
- Article
- A genealogy-based approach for revealing ancestry-specific structures in admixed populations.American journal of human genetics · 2025Article
- A genealogy-based approach for revealing ancestry-specific structures in admixed populations.bioRxiv : the preprint server for biology · 2025Article
- Adaptive Evolution of Two Distinct Adaptive Haplotypes of Neanderthal Origin at the Immunoglobulin Heavy-chain Locus in East Asian and European Populations.Molecular biology and evolution · 2024Article
- A comprehensive whole genome database of ethnic minority populations.Scientific reports · 2024Article
- Adaptive Selection of Cis-regulatory Elements in the Han Chinese.Molecular biology and evolution · 2024Article
- Shared genetic basis informs the roles of polyunsaturated fatty acids in brain disorders.medRxiv : the preprint server for health sciences · 2023Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
As are most non-European populations, the Han Chinese are relatively understudied in population and medical genetics studies. From low-coverage whole-genome sequencing of 11,670 Han Chinese women we present a catalog of 25,057,223 variants, including 548,401 novel variants that are seen at least 10 times in our data set. Individuals from this data set came from 24 out of 33 administrative divisions across China (including 19 provinces, 4 municipalities, and 1 autonomous region), thus allowing us to study population structure, genetic ancestry, and local adaptation in Han Chinese. We identified previously unrecognized population structure along the East-West axis of China, demonstrated a general pattern of isolation-by-distance among Han Chinese, and reported unique regional signals of admixture, such as European influences among the Northwestern provinces of China. Furthermore, we identified a number of highly differentiated, putatively adaptive, loci (e.g., MTHFR, ADH7, and FADS, among others) that may be driven by immune response, climate, and diet in the Han Chinese. Finally, we have made available allele frequency estimates stratified by administrative divisions across China in the Geography of Genetic Variant browser for the broader community. By leveraging the largest currently available genetic data set for Han Chinese, we have gained insights into the history and population structure of the world's largest ethnic group.
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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 OpenQuestion graph.