Tracking human population structure through time from whole genome sequences

Autoři: Ke Wang aff001;  Iain Mathieson aff002;  Jared O’Connell aff003;  Stephan Schiffels aff001
Působiště autorů: Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany aff001;  Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United State of America aff002;  Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America aff002;  23andMe Inc., Mountain View, California, United State of America aff003;  23andMe Inc., Mountain View, California, United States of America aff003
Vyšlo v časopise: Tracking human population structure through time from whole genome sequences. PLoS Genet 16(3): e32767. doi:10.1371/journal.pgen.1008552
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008552


The genetic diversity of humans, like many species, has been shaped by a complex pattern of population separations followed by isolation and subsequent admixture. This pattern, reaching at least as far back as the appearance of our species in the paleontological record, has left its traces in our genomes. Reconstructing a population’s history from these traces is a challenging problem. Here we present a novel approach based on the Multiple Sequentially Markovian Coalescent (MSMC) to analyze the separation history between populations. Our approach, called MSMC-IM, uses an improved implementation of the MSMC (MSMC2) to estimate coalescence rates within and across pairs of populations, and then fits a continuous Isolation-Migration model to these rates to obtain a time-dependent estimate of gene flow. We show, using simulations, that our method can identify complex demographic scenarios involving post-split admixture or archaic introgression. We apply MSMC-IM to whole genome sequences from 15 worldwide populations, tracking the process of human genetic diversification. We detect traces of extremely deep ancestry between some African populations, with around 1% of ancestry dating to divergences older than a million years ago.

Klíčová slova:

DNA recombination – Gene flow – Genomic libraries – Haplotypes – Human genomics – Introgression – Population size – Simulation and modeling


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