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Detection of human adaptation during the past 2,000 years

View ORCID ProfileYair Field, View ORCID ProfileEvan A Boyle, Natalie Telis, Ziyue Gao, Kyle J. Gaulton, David Golan, Loic Yengo, Ghislain Rocheleau, Philippe Froguel, Mark I. McCarthy, View ORCID ProfileJonathan K. Pritchard
doi: https://doi.org/10.1101/052084
Yair Field
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
2Howard Hughes Medical Institute, Stanford University, Stanford CA 94305, USA.
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  • For correspondence: yairf@stanford.edu pritch@stanford.edu
Evan A Boyle
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
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Natalie Telis
3Program in Biomedical Informatics, Stanford University, Stanford CA 94305, USA.
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Ziyue Gao
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
2Howard Hughes Medical Institute, Stanford University, Stanford CA 94305, USA.
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Kyle J. Gaulton
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
4Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford UK.
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David Golan
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
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Loic Yengo
5Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000 Lille, France
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Ghislain Rocheleau
5Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000 Lille, France
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Philippe Froguel
5Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000 Lille, France
6Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London, UK.
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Mark I. McCarthy
4Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford UK.
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Jonathan K. Pritchard
1Department of Genetics, Stanford University, Stanford CA 94305, USA.
2Howard Hughes Medical Institute, Stanford University, Stanford CA 94305, USA.
7Department of Biology, Stanford University, Stanford CA.
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  • For correspondence: yairf@stanford.edu pritch@stanford.edu
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Abstract

Detection of recent natural selection is a challenging problem in population genetics, as standard methods generally integrate over long timescales. Here we introduce the Singleton Density Score (SDS), a powerful measure to infer very recent changes in allele frequencies from contemporary genome sequences. When applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past 2,000 years. We see strong signals of selection at lactase and HLA, and in favor of blond hair and blue eyes. Turning to signals of polygenic adaptation we find, remarkably, that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we report suggestive new evidence for polygenic shifts affecting many other complex traits. Our results suggest that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.

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Posted May 07, 2016.
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Detection of human adaptation during the past 2,000 years
Yair Field, Evan A Boyle, Natalie Telis, Ziyue Gao, Kyle J. Gaulton, David Golan, Loic Yengo, Ghislain Rocheleau, Philippe Froguel, Mark I. McCarthy, Jonathan K. Pritchard
bioRxiv 052084; doi: https://doi.org/10.1101/052084
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Detection of human adaptation during the past 2,000 years
Yair Field, Evan A Boyle, Natalie Telis, Ziyue Gao, Kyle J. Gaulton, David Golan, Loic Yengo, Ghislain Rocheleau, Philippe Froguel, Mark I. McCarthy, Jonathan K. Pritchard
bioRxiv 052084; doi: https://doi.org/10.1101/052084

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