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General triallelic frequency spectrum under demographic models with variable population size
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Jenkins, Paul, Mueller, Jonas W. and Song, Yun S. (2014) General triallelic frequency spectrum under demographic models with variable population size. Genetics, Volume 196 (Number 1). pp. 295-311. doi:10.1534/genetics.113.158584 ISSN 0016-6731.
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Official URL: http://dx.doi.org/10.1534/genetics.113.158584
Abstract
It is becoming routine to obtain data sets on DNA sequence variation across several thousands of chromosomes, providing unprecedented opportunity to infer the underlying biological and demographic forces. Such data make it vital to study summary statistics that offer enough compression to be tractable, while preserving a great deal of information. One well-studied summary is the site frequency spectrum—the empirical distribution, across segregating sites, of the sample frequency of the derived allele. However, most previous theoretical work has assumed that each site has experienced at most one mutation event in its genealogical history, which becomes less tenable for very large sample sizes. In this work we obtain, in closed form, the predicted frequency spectrum of a site that has experienced at most two mutation events, under very general assumptions about the distribution of branch lengths in the underlying coalescent tree. Among other applications, we obtain the frequency spectrum of a triallelic site in a model of historically varying population size. We demonstrate the utility of our formulas in two settings: First, we show that triallelic sites are more sensitive to the parameters of a population that has experienced historical growth, suggesting that they will have use if they can be incorporated into demographic inference. Second, we investigate a recently proposed alternative mechanism of mutation in which the two derived alleles of a triallelic site are created simultaneously within a single individual, and we develop a test to determine whether it is responsible for the excess of triallelic sites in the human genome.
Item Type: | Journal Article | ||||
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Subjects: | Q Science > QA Mathematics Q Science > QH Natural history > QH426 Genetics |
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Divisions: | Faculty of Science, Engineering and Medicine > Science > Statistics | ||||
Journal or Publication Title: | Genetics | ||||
Publisher: | Genetics Society of America | ||||
ISSN: | 0016-6731 | ||||
Official Date: | 1 January 2014 | ||||
Dates: |
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Volume: | Volume 196 | ||||
Number: | Number 1 | ||||
Number of Pages: | 17 | ||||
Page Range: | pp. 295-311 | ||||
DOI: | 10.1534/genetics.113.158584 | ||||
Status: | Peer Reviewed | ||||
Publication Status: | Published | ||||
Funder: | National Institutes of Health, Alfred P. Sloan Research Fellowship, Packard Fellowship for Science and Engineering | ||||
Grant number: | R01-GM094402 | ||||
Open Access Version: |
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