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.pdfVIP

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.pdf

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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.pdf

Theoretical Population Biology 114 (2017) 88–94 Contents lists available at ScienceDirect Theoretical Population Biology journal homepage: /locate/tpb 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 Dominik Schrempf a,b,*, Asger Hobolthc a Institut für Populationsgenetik, Vetmeduni Vienna, Austria b Vienna Graduate School of Population Genetics, Austria c Bioinformatics Research Center, Aarhus University, Denmark article info Article history: Received 4 July 2016 Available online 29 December 2016 Keywords: Wright–Fisher model Moran model Diffusion equation Stationary distribution Boundary mutation model 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. ? 2016 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (/licenses/by-nc-nd/4.0/). 1. Introduction The incredible amount of available gen

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