Article

Effects of variable mutation rates and epistasis on the distribution of allele frequencies in humans

2016-04-13

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 sequences,...

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Literature Corpus work: 7baeaf37-3c01-5087-b39c-783eacc65060
DOI: 10.1101/048421

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