Nonparametric coalescent inference of mutation spectrum history and demography.

ABSTRACT: As populations boom and bust, the accumulation of genetic diversity is modulated, encoding histories of living populations in present-day variation. Many methods exist to decode these histories, and all must make strong model assumptions. It is typical to assume that mutations accumulate uniformly across the genome at a constant rate that does not vary between closely related populations. However, recent work shows that mutational processes in human and great ape populations vary across genomic regions and evolve over time. This perturbs the mutation spectrum (relative mutation rates in different local nucleotide contexts). Here, we develop theoretical tools in the framework of Kingman's coalescent to accommodate mutation spectrum dynamics. We present mutation spectrum history inference (m

SUBMITTER: DeWitt WS 

PROVIDER: S-EPMC8166128 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature