Article

Recurrent mutation in the ancestry of a rare variant

2022-08-18

Abstract excerpt

Recurrent mutation produces multiple copies of the same allele which may be co-segregating in a population. Yet most analyses of allele-frequency or site-frequency spectra assume that all observed copies of an allele trace back to a single mutation. We develop a sampling theory for the number of latent mutations in the ancestry of a rare variant, specifically a variant observed in relatively small count in a large...

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Literature Corpus work: 9ab194ed-9a35-5f53-891f-1e9e9f67e20d
DOI: 10.1101/2022.08.18.504427

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