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Human Genetic Admixture

Curated Collections

Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within an individual. Recent methodological and empirical developments have elucidated the genomic signatures of this admixture process, bringing previously understudied admixed populations to the forefront of population and medical genetics.

In this collection, we present a selection of PLOS Genetics research that exemplifies recent progress in human genetic admixture and areas for future development.

Image Credit: pgen.1008385 Fig 4 by Mehrjoo et al., CC BY 4.0

Collection Review
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    pgen.1009374 Fig 1 by Korunes and Goldberg, CC BY 4.0
    Human genetic admixture

    As a companion to the collection, this review highlights recent progress and discusses future directions for the study of admixed human populations.

Population history and demography
Phenotypically important loci and regions under selection
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    pgen.1002641 Fig 2 by Jarvis et al., CC BY 4.0
    Patterns of Ancestry, Signatures of Natural Selection, and Genetic Association with Stature in Western African Pygmies

    Analyzes a set of admixing Bantu-speaking agricultural and Western Pygmy hunter-gatherer populations and identifies several genomic regions that may have been targets of natural selection.

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    pgen.1003372 Fig 3 by Beleza et al., CC BY 4.0
    Genetic Architecture of Skin and Eye Color in an African- European Admixed Population

    Studies a unique population in Cape Verde in which extensive mixing between individuals of Portuguese and West African ancestry has given rise to a broad range of phenotypes.

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    pgen.1007791 Fig 1 by Rajabli et al., CC BY 4.0
    Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

    Shows that the risk of Alzheimer disease is lower for those who inherit the genomic region surrounding the ApoE gene from an African ancestor than for those who inherit from a European ancestor.

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    pgen.1004572 Fig 1 by Ruiz-Linares et al., CC BY 4.0
    Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

    Estimates individual ancestry proportions in a sample of 7,342 subjects from five countries (Brazil, Chile, Colombia, México and Perú), who were also characterized for physical appearance traits.

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    pgen.1008500 S5 Fig by Kowalski et al., CC BY 4.0
    Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

    Uses sequences from ~21,600 individuals of African ancestry (AAs) and ~21,700 Hispanics/Latinos and demonstrates substantially higher imputation quality for low frequency and rare variants.

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    pgen.1007650 Fig 2 by Jeong et al., CC BY 4.0
    Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

    Uses genotype and phenotype information of 1,000 ethnically Tibetan women to show that natural selection systematically altered frequency of alleles associated with reproductive outcomes.

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    Genetic ancestry and population differences in levels of inflammatory cytokines in women: Role for evolutionary selection and environmental factors

    Reveals a genetic variant implicated in low circulating levels of key chemokines regulating the migration of white blood cells, which occurs almost exclusively among Africans.

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    pgen.1005052 Fig 3 by Chimusa et al., CC BY 4.0
    A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations

    Identifies several signals of selection, before and after admixture, some of which involve loci associated with human diseases, including malaria, influenza, tuberculosis and HIV/AIDS.

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    Deleterious variation shapes the genomic landscape of introgression

    Shows that when ancestry from a larger population is added to a smaller population, ancestry from the larger population dramatically increases in frequency as it carries fewer deleterious mutations.

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    pgen.1006340 Fig 6 by Juric et al., CC BY 4.0
    The Strength of Selection against Neanderthal Introgression

    Shows that observed patterns of Neanderthal ancestry in modern humans can be explained simply as a consequence of the difference in effective population size between Neanderthals and humans.

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