Expectation of the Site Frequency Spectrum

2021/02/27 by Alan R. Rogers, Rogers, Alan R., Stephen P. Wooding +1
Biochemistry, Genetics and Molecular Biology · #FOS: Biological sciences #Populations and Evolution (q-bio.PE) #q-bio.PE

paper · pdf · doi:10.48550/arxiv.2103.00335

3 pages; 1 figure; no plans to publish elsewhere

arxiv created 2021/02/27 · arxiv updated 2021/03/02

Abstract

The site frequency spectrum describes variation among a set of n DNA sequences. Its i'th entry (i=1,2,...,n-1) is the number of nucleotide sites at which the mutant allele is present in i copies. Under selective neutrality, random mating, and constant population size, the expected value of the spectrum is well known but somewhat puzzling. Each additional sequence added to a sample adds an entry to the end of the expected spectrum but does not affect existing entries. This note reviews the reasons for this behavior.

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