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Inferring human population size and separation history from multiple genome sequences
Stephan Schiffels1, Richard Durbin1
1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Nature Genetics
|June 23, 2014
Summary
New methods reveal human population history. The multiple sequentially Markovian coalescent (MSMC) analyzes genome data to uncover ancient ancestral relationships and recent population separations worldwide.
Area of Science:
- Population Genetics
- Human Evolution
- Genomics
Background:
- Complete human genome sequences enable advanced population genetic inference methods.
- Existing methods have limitations in analyzing recent evolutionary history (under 20,000-30,000 years ago) and population separations.
Purpose of the Study:
- To introduce a novel method for analyzing human population history.
- To overcome limitations of previous methods in studying recent evolutionary events and population splits.
Main Methods:
- Developed the multiple sequentially Markovian coalescent (MSMC) method.
- MSMC analyzes mutation patterns in multiple individuals, focusing on the initial coalescence event between any two individuals.
Main Results:
- Applied MSMC to genome sequences from nine global populations.
- Genetic separation of non-African from African Yoruban ancestors predates 50,000 years ago.
- Detailed human population history as recent as 2,000 years ago, including the peopling of the Americas and splits within Africa, East Asia, and Europe.
Conclusions:
- MSMC is effective for inferring recent human population history.
- The study provides new insights into major human migration events and population divergences.
- The method offers a powerful tool for understanding complex human evolutionary dynamics.
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