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Inferring human population size and separation history from multiple genome sequences

Stephan Schiffels, View ORCID ProfileRichard Durbin
doi: https://doi.org/10.1101/005348
Stephan Schiffels
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Hinxton, Cambridge, United Kingdom
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Richard Durbin
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Hinxton, Cambridge, United Kingdom
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  • ORCID record for Richard Durbin
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Abstract

The availability of complete human genome sequences from populations across the world has given rise to new population genetic inference methods that explicitly model their ancestral relationship under recombination and mutation. So far, application of these methods to evolutionary history more recent than 20–30 thousand years ago and to population separations has been limited. Here we present a new method that overcomes these shortcomings. The Multiple Sequentially Markovian Coalescent (MSMC) analyses the observed pattern of mutations in multiple individuals, focusing on the first coalescence between any two individuals. Results from applying MSMC to genome sequences from nine populations across the world suggest that the genetic separation of non-African ancestors from African Yoruban ancestors started long before 50,000 years ago, and give information about human population history as recently as 2,000 years ago, including the bottleneck in the peopling of the Americas, and separations within Africa, East Asia and Europe.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted May 21, 2014.
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Inferring human population size and separation history from multiple genome sequences
Stephan Schiffels, Richard Durbin
bioRxiv 005348; doi: https://doi.org/10.1101/005348
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Inferring human population size and separation history from multiple genome sequences
Stephan Schiffels, Richard Durbin
bioRxiv 005348; doi: https://doi.org/10.1101/005348

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