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Recent explosive human population growth has resulted in an excess of rare genetic variants.


Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.


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    Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.


    Science (New York, N.Y.) 336:6082 2012 May 11 pg 740-3


    Asian Continental Ancestry Group
    European Continental Ancestry Group
    Gene Frequency
    Genetic Association Studies
    Genetic Predisposition to Disease
    Genetic Variation
    Genetics, Population
    Genome, Human
    Models, Genetic
    Polymorphism, Single Nucleotide
    Population Density
    Population Growth
    Sample Size
    Sequence Analysis, DNA

    Pub Type(s)

    Journal Article
    Research Support, N.I.H., Extramural
    Research Support, Non-U.S. Gov't



    PubMed ID