TRAILS: Tree reconstruction of ancestry using incomplete lineage sorting

PLoS Genet. 2024 Feb 8;20(2):e1010836. doi: 10.1371/journal.pgen.1010836. eCollection 2024 Feb.

Abstract

Genome-wide genealogies of multiple species carry detailed information about demographic and selection processes on individual branches of the phylogeny. Here, we introduce TRAILS, a hidden Markov model that accurately infers time-resolved population genetics parameters, such as ancestral effective population sizes and speciation times, for ancestral branches using a multi-species alignment of three species and an outgroup. TRAILS leverages the information contained in incomplete lineage sorting fragments by modelling genealogies along the genome as rooted three-leaved trees, each with a topology and two coalescent events happening in discretized time intervals within the phylogeny. Posterior decoding of the hidden Markov model can be used to infer the ancestral recombination graph for the alignment and details on demographic changes within a branch. Since TRAILS performs posterior decoding at the base-pair level, genome-wide scans based on the posterior probabilities can be devised to detect deviations from neutrality. Using TRAILS on a human-chimp-gorilla-orangutan alignment, we recover speciation parameters and extract information about the topology and coalescent times at high resolution.

MeSH terms

  • Animals
  • Genetic Speciation*
  • Genetics, Population
  • Hominidae* / genetics
  • Humans
  • Models, Genetic
  • Pan troglodytes / genetics
  • Phylogeny

Grants and funding

This work was supported by the Novo Nordisk Foundation (NNF18OC0031004 to MHS) and the Independent Research Fund Denmark, Natural Sciences (6108-00385 to MHS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.