Genome-wide detection and characterization of positive selection in human populations
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Sabeti, Pardis C, et al. Genome-wide Detection and Characterization of Positive Selection In Human Populations. 2007. https://doi.org/10.17615/qqht-jh84APA
Sabeti, P., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E., Mc Carroll, S., Gaudet, R., Schaffner, S., Lander, E., International Hap Map Consortium, T., & Li, Y. (2007). Genome-wide detection and characterization of positive selection in human populations. https://doi.org/10.17615/qqht-jh84Chicago
Sabeti, Pardis C., Patrick Varilly, Ben Fry, Jason Lohmueller, Elizabeth Hostetter, Chris Cotsapas, Xiaohui Xie et al. 2007. Genome-Wide Detection and Characterization of Positive Selection In Human Populations. https://doi.org/10.17615/qqht-jh84- Creator
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Sabeti, Pardis C.
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Varilly, Patrick
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Fry, Ben
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Lohmueller, Jason
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Hostetter, Elizabeth
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Cotsapas, Chris
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
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Xie, Xiaohui
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Byrne, Elizabeth H.
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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McCarroll, Steven A.
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
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Gaudet, Rachelle
- Other Affiliation: Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
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Schaffner, Stephen F.
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
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Lander, Eric S.
- Other Affiliation: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA; Department of Biology, MIT, Cambridge, Massachusetts 02139, USA; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
- The International HapMap Consortium
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Li, Yun
- Affiliation: School of Medicine, Department of Genetics
- Abstract
- With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used ‘long-range haplotype’ methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population: LARGE and DMD, both related to infection by the Lassa virus3, in West Africa; SLC24A5 and SLC45A2, both involved in skin pigmentation in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
- Date of publication
- 2007
- DOI
- Identifier
- https://doi.org/10.1038/nature06250
- 2-s2.0-35349012592
- Related resource URL
- Resource type
- Article
- Rights statement
- In Copyright
- Journal title
- Nature
- Journal volume
- 449
- Journal issue
- 7164
- Page start
- 913
- Page end
- 918
- Language
- English
- Version
- Postprint
- ISSN
- 1476-4687
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