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PMID: 16687733 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

How reliable are empirical genomic scans for selective sweeps?

Genome research ·Vol. 16 ·No. 6 ·2006-06-00 ·Pages 702-12

Teshima KM, Coop G, Przeworski M

Abstract

The beneficial substitution of an allele shapes patterns of genetic variation at linked sites. Thus, in principle, adaptations can be mapped by looking for the signature of directional selection in polymorphism data. In practice, such efforts are hampered by the need for an accurate characterization of the demographic history of the species and of the effects of positive selection. In an attempt to circumvent these difficulties, researchers are increasingly taking a purely empirical approach, in which a large number of genomic regions are ordered by summaries of the polymorphism data, and loci with extreme values are considered to be likely targets of positive selection. We evaluated the reliability of the "empirical" approach, focusing on applications to human data and to maize. To do so, we considered a coalescent model of directional selection in a sensible demographic setting, allowing for selection on standing variation as well as on a new mutation. Our simulations suggest that while empirical approaches will identify several interesting candidates, they will also miss many--in some cases, most--loci of interest. The extent of the trade-off depends on the mode of positive selection and the demographic history of the population. Specifically, the false-discovery rate is higher when directional selection involves a recessive rather than a co-dominant allele, when it acts on a previously neutral rather than a new allele, and when the population has experienced a population bottleneck rather than maintained a constant size. One implication of these results is that, insofar as attributes of the beneficial mutation (e.g., the dominance coefficient) affect the power to detect targets of selection, genomic scans will yield an unrepresentative subset of loci that contribute to adaptations.

MeSH Terms
Africa South of the Sahara Demography Gene Frequency Genetics, Population/methods Genomics/methods,standards Humans Models, Genetic Mutation Polymorphism, Genetic Research Design Selection, Genetic Zea mays
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Teshima Kosuke M
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. [email protected]
Coop Graham
Przeworski Molly
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
Published
2006-06-00
Epub
2006-00-10
Pages
702-12
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC1473181
Subset
IM
Grants
NIGMS NIH HHS · R01 GM072861 · United States
NHGRI NIH HHS · R01 HG002772 · United States
NHGRI NIH HHS · HG002772 · United States
NIGMS NIH HHS · GM72861 · United States
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