Article

Accounting for recurrent mutation in the frequency spectrum of rare alleles

2026-05-31

Abstract excerpt

<h4>ABSTRACT</h4> As whole-genome and whole-exome datasets increase in size, they uncover alleles at lower and lower frequencies in the population. Samples of rare alleles often include recurrent mutations, where derived alleles are identical by state and not by descent. As a result, the site frequency spectrum (SFS) becomes challenging to analyze because it is strongly dependent on the mutation rate. To overcome...

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Literature Corpus work: 7bd71c80-1faf-5bdd-a45d-40a0b85bb150
DOI: 10.64898/2026.05.29.728884

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