The expected neutral frequency spectrum of two linked sites

arxiv(2016)

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摘要
We present an exact, closed expression for the expected neutral Site Frequency Spectrum for two neutral sites, 2-SFS, without recombination. This spectrum is the immediate extension of the well known single site $\theta/f$ neutral SFS. Similar formulae are also provided for the case of the expected SFS of sites that are linked to a focal neutral mutation of known frequency. Formulae for finite samples are obtained by coalescent methods and remarkably simple expressions are derived for the SFS of a large population, which are also solutions of the multi-allelic Kolmogorov equations. We also present the single-locus triallelic spectrum. Beyond their fundamental interest, these results can be used to improve neutrality tests, composite likelihood and Poisson random field methods.
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