Sweeps in time: Leveraging the joint distribution of branch lengths

Gertjan Bisschop, Konrad Lohse, Derek Setter

Research output: Contribution to journalArticlepeer-review

Abstract

Current methods of identifying positively selected regions in the genome are limited in two key ways: the underlying models cannot account for the timing of adaptive events and the comparison between models of selective sweeps and sequence data is generally made via simple summaries of genetic diversity. Here we develop a tractable method of describing the effect of positive selection on the genealogical histories in the surrounding genome, explicitly modeling both the timing and context of an adaptive event. In addition, our framework allows us to go beyond analyzing polymorphism data via the site frequency spectrum or summaries thereof and instead leverage information contained in patterns of linked variants. Tests on both simulations and a human data example, as well as a comparison to SweepFinder2, show that even with very small sample sizes, our analytic framework has higher power to identify old selective sweeps and to correctly infer both the time and strength of selection. Finally, we derived the marginal distribution of genealogical branch lengths at a locus affected by selection acting at a linked site. This provides a much-needed link between our analytic understanding of the effects of sweeps on sequence variation and recent advances in simulation and heuristic inference procedures that allow researchers to examine the sequence of genealogical histories along the genome.
Original languageEnglish
Article numberiyab119
Number of pages23
JournalGenetics
Volume219
Issue number2
Early online date3 Aug 2021
DOIs
Publication statusPublished - 1 Oct 2021

Keywords

  • selective sweeps
  • positive selection
  • genealogy
  • inference
  • coalescent

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