Mapping gene flow between ancient hominins through demography-aware inference of the ancestral recombination graph

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Hubisz, Melissa J.; Williams, Amy L.; Siepel, Adam
Year of Publication: 2020
Journal: PLOS Genetics
Volume: 16
Issue: 8
Pagination: e1008895 -
Date Published: 2020/08/06
Publication Language: eng

We present ARGweaver-D, an extension of the ARGweaver algorithm which can be applied under a user-defined demographic model including population splits and migration events. Given genome sequence data from a collection of individuals across multiple closely related populations or subspecies, ARGweaver-D can infer trees describing the genetic relationships among these individuals at every location along the genome, conditional on the demographic model. Like ARGweaver, ARGweaver-D is a Bayesian method, sampling trees from the posterior distribution in order to account for uncertainty. Using simulations, we show that ARGweaver-D can successfully identify regions introgressed from Neanderthals and Denisovans into modern humans. It is also well-powered to detect introgressed regions stemming from older gene-flow events. We apply ARGweaver-D to the genomes of two Neanderthals, a Denisovan, and two African humans. We identify 3% of the Neanderthal genome which is likely derived from gene flow from ancient humans. We also identify about 1% of the Denisovan genome that may be traced to an unsequenced archaic hominin; 15% of these regions were subsequently passed to modern humans. We find no convincing evidence that selection acted against any of these introgressed regions.