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The neutral frequency spectrum of linked sites

Authors: Ferretti, Luca; Klassmann, Alexander; Raineri, Emanuele; Ramos-Onsins, Sebastián; Wiehe, Thomas; Achaz, Guillaume;

The neutral frequency spectrum of linked sites

Abstract

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.

Country
France
Keywords

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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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
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17
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89
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