
pmid: 29886455
Abstract The variability in population size is a key quantity for understanding the evolutionary history of a species. We present a new method, CubSFS, for estimating the changes in population size of a panmictic population from the site frequency spectrum. First, we provide a straightforward proof for the expression of the expected site frequency spectrum depending only on the population size. Our derivation is based on an eigenvalue decomposition of the instantaneous coalescent rate matrix. Second, we solve the inverse problem of determining the variability in population size from an observed SFS. Our solution is based on a cubic spline for the population size. The cubic spline is determined by minimizing the weighted average of two terms, namely (i) the goodness of fit to the SFS, and (ii) a penalty term based on the smoothness of the changes. The weight is determined by cross-validation. The new method is validated on simulated demographic histories and applied on data from nine different human populations.
population size, Population Density, site frequency spectrum, Models, Genetic, Genome, Human, Black People, Human Genetics, White People, Applications of statistics to biology and medical sciences; meta analysis, regularization, Genetics, Population, Problems related to evolution, Asian People, Gene Frequency, Human Genome Project, Humans, Coalescent theory, Genetics and epigenetics, Nonparametric estimation, Software, coalescent theory
population size, Population Density, site frequency spectrum, Models, Genetic, Genome, Human, Black People, Human Genetics, White People, Applications of statistics to biology and medical sciences; meta analysis, regularization, Genetics, Population, Problems related to evolution, Asian People, Gene Frequency, Human Genome Project, Humans, Coalescent theory, Genetics and epigenetics, Nonparametric estimation, Software, coalescent theory
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