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Article

Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.

PLoS genetics - 1 Dec 2016

Harpak Arbel, Bhaskar Anand, Pritchard Jonathan K

Abstract excerpt

The site frequency spectrum (SFS) has long been used to study demographic history and natural selection. Here, we extend this summary by examining the SFS conditional on the alleles found at the same site in other species. We refer to this extension as the "phylogenetically-conditioned SFS" or cSFS. Using recent large-sample data from the Exome Aggregation Consortium (ExAC), combined with primate genome...

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Identifiers

PMID: 27977673
DOI: 10.1371/journal.pgen.1006489
PMCID: PMC5157949

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