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Abstract We investigate the dependence of the site frequency spectrum (SFS) on the topological structure of genealogical trees. We show that basic population genetic statistics – for instance estimators of θ or neutrality tests such as Tajima’s D – can be decomposed into components of waiting times between coalescent events and of tree topology. Our results clarify the relative impact of the two components on these statistics. We provide a rigorous interpretation of positive or negative values of an important class of neutrality tests in terms of the underlying tree shape. In particular, we show that values of Tajima’s D and Fay and Wu’s H depend in a direct way on a peculiar measure of tree balance which is mostly determined by the root balance of the tree. We present a new test for selection in the same class as Fay and Wu’s H and discuss its interpretation and power. Finally, we determine the trees corresponding to extreme expected values of these neutrality tests and present formulae for these extreme values as a function of sample size and number of segregating sites.
tree shape, Genomics (q-bio.GN), site frequency spectrum, Models, Genetic, Populations and Evolution (q-bio.PE), [SDV] Life Sciences [q-bio], tree balance, Mutation Rate, FOS: Biological sciences, neutrality tests, Quantitative Biology - Genomics, Selection, Genetic, Quantitative Biology - Populations and Evolution, Phylogeny, coalescent theory
tree shape, Genomics (q-bio.GN), site frequency spectrum, Models, Genetic, Populations and Evolution (q-bio.PE), [SDV] Life Sciences [q-bio], tree balance, Mutation Rate, FOS: Biological sciences, neutrality tests, Quantitative Biology - Genomics, Selection, Genetic, Quantitative Biology - Populations and Evolution, Phylogeny, coalescent theory
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