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The effects of mutation and recombination rate heterogeneity on the inference of demography and the distribution of fitness effects.

Vivak SoniSusanne P PfeiferJeffrey D Jensen
Published in: bioRxiv : the preprint server for biology (2023)
Despite evidence from numerous species that mutation and recombination rates vary along the genome, both rates tend to be modelled as fixed when performing population genetic inference. The impact of failing to account for this rate heterogeneity on the estimation of demographic and selective parameters has yet to be well quantified; thus, we here study this effect by comparing inference under both fixed and variable rate scenarios. Our results demonstrate that unaccounted for rate heterogeneity can increase uncertainty and lead to mis-inference in certain scenarios. We highlight the importance of utilizing mutation and recombination rate maps where possible, and of modelling the uncertainty underlying these estimates.
Keyphrases
  • single cell
  • dna damage
  • dna repair
  • climate change
  • genome wide
  • body composition
  • copy number