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Robust and scalable inference of population history from hundreds of unphased whole genomes

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Terhorst, Jonathan, Kamm, John A, Song, Yun S·2017·Nature Genetics

Abstract

It has recently been demonstrated that inference methods based on genealogical processes with recombination can uncover past population history in unprecedented detail. However, these methods scale poorly with sample size, limiting resolution in the recent past, and they require phased genomes, which contain switch errors that can catastrophically distort the inferred history. Here we present SMC++, a new statistical tool capable of analyzing orders of magnitude more samples than existing methods while requiring only unphased genomes (its results are independent of phasing). SMC++ can jointly infer population size histories and split times in diverged populations, and it employs a novel spline regularization scheme that greatly reduces estimation error. We apply SMC++ to analyze sequence data from over a thousand human genomes in Africa and Eurasia, hundreds of genomes from a Drosophila melanogaster population in Africa, and tens of genomes from zebra finch and long-tailed finch populations in Australia.

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Metadata

Authors
Terhorst, J., Kamm, J. A., & Song, Y. S.
Venue
Nature Genetics
Published
2016-12-26
Volume
49
Issue
2
Pages
303-309
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2564456678
Cited by
937
References
44
FWCI
27.64
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Robust and scalable inference of population history from hundreds of unphased whole genomes. https://app.cochat.ai/papers/10.1038/ng.3748
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Terhorst, J., Kamm, J. A., & Song, Y. S. (2017). Robust and scalable inference of population history from hundreds of unphased whole genomes. Nature Genetics. https://doi.org/10.1038/ng.3748

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