A consensus tree approach for reconstructing human evolutionary history and detecting population substructure

  • Authors:
  • Ming-Chi Tsai;Guy Blelloch;R. Ravi;Russell Schwartz

  • Affiliations:
  • Joint CMU-Pitt Computational Biology Program, Carnegie Mellon University and University of Pittsburgh, Pittsburgh, PA;Department of Computer Science, Carnegie Mellon University, Pittsburgh, PA;Tepper School of Business, Carnegie Mellon University, Pittsburgh, PA;Department of Biological Science, Carnegie Mellon University, Pittsburgh, PA

  • Venue:
  • ISBRA'10 Proceedings of the 6th international conference on Bioinformatics Research and Applications
  • Year:
  • 2010

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Abstract

The random accumulation of variations in the human genome over time implicitly encodes a history of how human populations have arisen, dispersed, and intermixed since we emerged as a species. Reconstructing that history is a challenging computational and statistical problem but has important applications both to basic research and to the discovery of genotype-phenotype correlations. In this study, we present a novel approach to inferring human evolutionary history from genetic variation data. Our approach uses the idea of consensus trees, a technique generally used to reconcile species trees from divergent gene trees, adapting it to the problem of finding the robust relationships within a set of intraspecies phylogenies derived from local regions of the genome. We assess the quality of the method on two large-scale genetic variation data sets: the HapMap Phase II and the Human Genome Diversity Project. Qualitative comparison to a consensus model of the evolution of modern human population groups shows that our inferences closely match our best current understanding of human evolutionary history. A further comparison with results of a leading method for the simpler problem of population substructure assignment verifies that our method provides comparable accuracy in identifying meaningful population subgroups in addition to inferring the relationships among them.