Inferring human population size and separation history from multiple genome sequences

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 rece...

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Main Authors: Schiffels, Stephan, Durbin, Richard
Format: Online
Language:English
Published: 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116295/
id pubmed-4116295
recordtype oai_dc
spelling pubmed-41162952015-02-01 Inferring human population size and separation history from multiple genome sequences Schiffels, Stephan Durbin, Richard Article 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. 2014-06-22 2014-08 /pmc/articles/PMC4116295/ /pubmed/24952747 http://dx.doi.org/10.1038/ng.3015 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Schiffels, Stephan
Durbin, Richard
spellingShingle Schiffels, Stephan
Durbin, Richard
Inferring human population size and separation history from multiple genome sequences
author_facet Schiffels, Stephan
Durbin, Richard
author_sort Schiffels, Stephan
title Inferring human population size and separation history from multiple genome sequences
title_short Inferring human population size and separation history from multiple genome sequences
title_full Inferring human population size and separation history from multiple genome sequences
title_fullStr Inferring human population size and separation history from multiple genome sequences
title_full_unstemmed Inferring human population size and separation history from multiple genome sequences
title_sort inferring human population size and separation history from multiple genome sequences
description 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.
publishDate 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116295/
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