학술논문

Site frequency spectra from genomic SNP surveys
Document Type
Report
Source
Theoretical Population Biology. June, 2009, Vol. 75 Issue 4, p346, 9 p.
Subject
Evolution -- Surveys
Language
English
ISSN
0040-5809
Abstract
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.tpb.2009.04.003 Byline: Ganeshkumar Ganapathy (a), Marcy K. Uyenoyama (b) 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 (I[cedilla]). 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. Author Affiliation: (a) National Evolutionary Synthesis Center, 2024 W. Main Street, Suite A200, Durham, NC 27705-4667, USA (b) Department of Biology, Box 90338, Duke University, Durham, NC 27708-0338, USA Article History: Received 28 December 2008