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Science. 2016 Nov 11;354(6313):760-764. Epub 2016 Oct 13.

Detection of human adaptation during the past 2000 years.

Author information

1
Department of Genetics, Stanford University, Stanford, CA 94305, USA. yairf@stanford.edu pritch@stanford.edu.
2
Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA.
3
Department of Genetics, Stanford University, Stanford, CA 94305, USA.
4
Program in Biomedical Informatics, Stanford University, Stanford, CA 94305, USA.
5
Wellcome Trust Center for Human Genetics, and Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK.
6
Univ. Lille, CNRS, Institut Pasteur de Lille, UMR 8199-EGID, F-59000 Lille, France.
7
Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
8
Imperial College, Department of Genomics of Common Disease, London Hammersmith Hospital, London, UK.
9
Department of Biology, Stanford University, Stanford, CA, USA.

Abstract

Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer very recent changes in allele frequencies from contemporary genome sequences. Applied to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Britons during the past ~2000 to 3000 years. We see strong signals of selection at lactase and the major histocompatibility complex, and in favor of blond hair and blue eyes. For polygenic adaptation, we find that recent selection for increased height has driven allele frequency shifts across most of the genome. Moreover, we identify shifts associated with other complex traits, suggesting that polygenic adaptation has played a pervasive role in shaping genotypic and phenotypic variation in modern humans.

PMID:
27738015
PMCID:
PMC5182071
DOI:
10.1126/science.aag0776
[Indexed for MEDLINE]
Free PMC Article

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