ArticlePloS one2009
Genetic variation and recent positive selection in worldwide human populations: evidence from nearly 1 million SNPs.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed, 169 citations in OpenAlex.
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- Reflections on the Human Genome Diversity Project: a conversation with Marcus W. Feldman, Henry T. Greely, and Mary-Claire King.Genetics · 2026Article
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
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- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.American journal of human genetics · 2025Article
- Characterizing substructure via mixture modeling in large-scale genetic summary statistics.bioRxiv : the preprint server for biology · 2024Article
- Human subsistence and signatures of selection on chemosensory genes.Communications biology · 2023Article
- Social ties in the Congo Basin: insights into tropical forest adaptation from BaYaka and their neighbours.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Whole-Genome Analysis Deciphers Population Structure and Genetic Introgression Among Bovine Species.Frontiers in genetics · 2022Article
- Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences.Nucleic acids research · 2021Article
- Historical Introgression from Wild Relatives Enhanced Climatic Adaptation and Resistance to Pneumonia in Sheep.Molecular biology and evolution · 2021Article
- Reinterpreting patterns of variation in human thyroid function: An evolutionary ecology perspective.Evolution, medicine, and public health · 2021Review
- Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.EBioMedicine · 2020Article
- MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions.Arthritis research & therapy · 2020Article
- Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.Human genetics · 2019Article
- Genomic diversity and admixture patterns among six Chinese indigenous cattle breeds in Yunnan.Asian-Australasian journal of animal sciences · 2019Article
- Locomotor constraints favour the evolution of the human pygmy phenotype in tropical rainforests.Proceedings. Biological sciences · 2018Article
- Global genomic diversity and conservation priorities for domestic animals are associated with the economies of their regions of origin.Scientific reports · 2018Article
- Reconstructing an African haploid genome from the 18th century.Nature genetics · 2018Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome-wide scans of hundreds of thousands of single-nucleotide polymorphisms (SNPs) have resulted in the identification of new susceptibility variants to common diseases and are providing new insights into the genetic structure and relationships of human populations. Moreover, genome-wide data can be used to search for signals of recent positive selection, thereby providing new insights into the genetic adaptations that occurred as modern humans spread out of Africa and around the world. METHODOLOGY: We genotyped approximately 500,000 SNPs in 255 individuals (5 individuals from each of 51 worldwide populations) from the Human Genome Diversity Panel (HGDP-CEPH). When merged with non-overlapping SNPs typed previously in 250 of these same individuals, the resulting data consist of over 950,000 SNPs. We then analyzed the genetic relationships and ancestry of individuals without assigning them to populations, and we also identified candidate regions of recent positive selection at both the population and regional (continental) level.
conclusionsOur analyses both confirm and extend previous studies; in particular, we highlight the impact of various dispersals, and the role of substructure in Africa, on human genetic diversity. We also identified several novel candidate regions for recent positive selection, and a gene ontology (GO) analysis identified several GO groups that were significantly enriched for such candidate genes, including immunity and defense related genes, sensory perception genes, membrane proteins, signal receptors, lipid binding/metabolism genes, and genes involved in the nervous system. Among the novel candidate genes identified are two genes involved in the thyroid hormone pathway that show signals of selection in African Pygmies that may be related to their short stature.
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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.