Bayesian Inference of Ancient Human Demography From Individual Genome Sequences

Nat Genet. 2011 Sep 18;43(10):1031-4. doi: 10.1038/ng.937.

Abstract

Whole-genome sequences provide a rich source of information about human evolution. Here we describe an effort to estimate key evolutionary parameters based on the whole-genome sequences of six individuals from diverse human populations. We used a Bayesian, coalescent-based approach to obtain information about ancestral population sizes, divergence times and migration rates from inferred genealogies at many neutrally evolving loci across the genome. We introduce new methods for accommodating gene flow between populations and integrating over possible phasings of diploid genotypes. We also describe a custom pipeline for genotype inference to mitigate biases from heterogeneous sequencing technologies and coverage levels. Our analysis indicates that the San population of southern Africa diverged from other human populations approximately 108-157 thousand years ago, that Eurasians diverged from an ancestral African population 38-64 thousand years ago, and that the effective population size of the ancestors of all modern humans was ∼9,000.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Bayes Theorem
  • Chromosome Mapping
  • Evolution, Molecular
  • Gene Flow
  • Genetic Drift
  • Genetic Variation
  • Genetics, Population*
  • Genome, Human*
  • Humans
  • Models, Genetic
  • Population Density*
  • Population Dynamics
  • Sequence Alignment
  • Validation Studies as Topic