title: An alternative derivation of the stationary distribution of the multivariate neutral Wright-Fisher model for low mutation rates with a view to mutation rate estimation from site frequency data.
abstract: Recently, Burden and Tang (2016) provided an analytical expression for the stationary distribution of the multivariate neutral Wright-Fisher model with low mutation rates. In this paper we present a simple, alternative derivation that illustrates the approximation. Our proof is based on the discrete multivariate boundary mutation model which has three key ingredients. First, the decoupled Moran model is used to describe genetic drift. Second, low mutation rates are assumed by limiting mutations to monomorphic states. Third, the mutation rate matrix is separated into a time-reversible part and a flux part, as suggested by Burden and Tang (2016). An application of our result to data from several great apes reveals that the assumption of stationarity may be inadequate or that other evolutionary forces like selection or biased gene conversion are acting. Furthermore we find that the model with a reversible mutation rate matrix provides a reasonably good fit to the data compared to the one with a non-reversible mutation rate matrix.
authors.affiliation: Institut für Populationsgenetik, Vetmeduni Vienna, Austria; Vienna Graduate School of Population Genetics, Austria. Electronic address: dominik.schrempf@vetmeduni.ac.at.
authors.forename: Dominik
authors.initials: D
authors.lastname: Schrempf
authors.affiliation: Bioinformatics Research Center, Aarhus University, Denmark.
authors.forename: Asger
authors.initials: A
authors.lastname: Hobolth
mesh_terms: D005075:Biological Evolution; D005787:Gene Frequency; D040961:Genetic Drift; D005828:Genetics, Population; D008957:Models, Genetic; D009154:Mutation; D059645:Mutation Rate; D012641:Selection, Genetic
keywords: Boundary mutation model; Diffusion equation; Moran model; Stationary distribution; Wright–Fisher model