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Abstract We introduce the conditional Site Frequency Spectrum (SFS) for a genomic region linked to a focal mutation of known frequency. An exact expression for its expected value is provided for the neutral model without recombination. Its relation with the expected SFS for two sites, 2-SFS, is discussed. These spectra derive from the coalescent approach of Fu (1995) for finite samples, which is reviewed. Remarkably simple expressions are obtained for the linked SFS of a large population, which are also solutions of the multiallelic Kolmogorov equations. These formulae are the immediate extensions of the well known single site θ / f neutral SFS. Besides the general interest in these spectra, they relate to relevant biological cases, such as structural variants and introgressions. As an application, a recipe to adapt Tajima’s D and other SFS-based neutrality tests to a non-recombining region containing a neutral marker is presented.
site frequency spectrum, Models, Genetic, Kingman coalescent, Linkage Disequilibrium, Applications of statistics to biology and medical sciences; meta analysis, [SDV] Life Sciences [q-bio], Evolution, Molecular, Genetics, Population, Problems related to evolution, Mutation Rate, Site frequency spectrum, Linkage disequilibrium, Genetics and epigenetics, neutral evolution, Selection, Genetic, Neutral evolution, linkage disequilibrium
site frequency spectrum, Models, Genetic, Kingman coalescent, Linkage Disequilibrium, Applications of statistics to biology and medical sciences; meta analysis, [SDV] Life Sciences [q-bio], Evolution, Molecular, Genetics, Population, Problems related to evolution, Mutation Rate, Site frequency spectrum, Linkage disequilibrium, Genetics and epigenetics, neutral evolution, Selection, Genetic, Neutral evolution, linkage disequilibrium
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