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https://doi.org/10.1101/375907...
Article . 2018 . Peer-reviewed
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The Site Frequency Spectrum under Finite and Time-Varying Mutation Rates

Authors: Melfi, Andrew; Viswanath, Divakar;

The Site Frequency Spectrum under Finite and Time-Varying Mutation Rates

Abstract

Abstract The diversity in genomes is due to the accumulation of mutations and the site frequency spectrum (SFS) is a popular statistic for summarizing genomic data. The current coalescent algorithm for calculating the SFS for a given demography assumes the μ → 0 limit, where μ is the mutation probability (or rate) per base pair per generation. The algorithm is applicable when μN , N being the haploid population size, is negligible. We derive a coalescent based algorithm for calculating the SFS that allows the mutation rate μ ( t ) as well as the population size N ( t ) to vary arbitrarily as a function of time. That algorithm shows that the probability of two mutations in the genealogy becomes noticeable already for μ = 10 -8 for samples of n = 10 5 haploid human genomes and increases rapidly with μ . Our algorithm calculates the SFS under the assumption of a single mutation in the genealogy, and the part of the SFS due to a single mutation depends only mildly on the finiteness of μ . However, the dependence of the SFS on variation in μ can be substantial for even n = 100 samples. In addition, increasing and decreasing mutation rates alter the SFS in different ways and to different extents.

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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!
0
Average
Average
Average
Green