An important summary statistic in population genetic studies is the site-frequency spectrum, which describes the distribution of allele frequencies in the population. Theoretical work has generally assumed that one mutation at most has occurred at each site, but this is unlikely to hold for large populations. These authors model the frequency spectrum for a triallelic site, at which two mutations have occurred. They show that such sites are more useful than biallelic sites for detecting the influence of demographic history.
References
Jenkins, P. A., Mueller, J. W. & Song, Y. S. General triallelic frequency spectrum under demographic models with variable population size. Genetics http://dx.doi.org/10.1534/genetics.113.158584 (2013)
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Flintoft, L. Triallelic sites and demographic history. Nat Rev Genet 15, 2 (2014). https://doi.org/10.1038/nrg3649
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DOI: https://doi.org/10.1038/nrg3649
