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Site frequency spectra from genomic SNP surveys

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  • Ganapathy, Ganeshkumar
  • Uyenoyama, Marcy K.

Abstract

Genomic survey data now permit an unprecedented level of sensitivity in the detection of departures from canonical evolutionary models, including expansions in population size and selective sweeps. Here, we examine the effects of seemingly subtle differences among sampling distributions on goodness of fit analyses of site frequency spectra constructed from single nucleotide polymorphisms. Conditioning on the observation of exactly two alleles in a random sample results in a site frequency spectrum that is independent of the scaled rate of neutral substitution (θ). Other sampling distributions, including conditioning on a single mutational event in the sample genealogy or randomly selecting a single mutation from a genealogy with multiple mutations, have distinct site frequency spectra that show highly significant departures from the predictions of the biallelic model. Some aspects of data filtering may contribute to significant departures of site frequency spectra from expectation, apart from any violation of the standard neutral model.

Suggested Citation

  • Ganapathy, Ganeshkumar & Uyenoyama, Marcy K., 2009. "Site frequency spectra from genomic SNP surveys," Theoretical Population Biology, Elsevier, vol. 75(4), pages 346-354.
    • Handle: RePEc:eee:thpobi:v:75:y:2009:i:4:p:346-354
    DOI: 10.1016/j.tpb.2009.04.003
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    References listed on IDEAS

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    1. Hobolth Asger & Uyenoyama Marcy K & Wiuf Carsten, 2008. "Importance Sampling for the Infinite Sites Model," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 7(1), pages 1-26, October.
    2. Hobolth, Asger & Wiuf, Carsten, 2009. "The genealogy, site frequency spectrum and ages of two nested mutant alleles," Theoretical Population Biology, Elsevier, vol. 75(4), pages 260-265.
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