Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.ajhg.2013.04.021
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dc.titleDetecting and characterizing genomic signatures of positive selection in global populations
dc.contributor.authorLiu, X.
dc.contributor.authorOng, R.T.-H.
dc.contributor.authorPillai, E.N.
dc.contributor.authorElzein, A.M.
dc.contributor.authorSmall, K.S.
dc.contributor.authorClark, T.G.
dc.contributor.authorKwiatkowski, D.P.
dc.contributor.authorTeo, Y.-Y.
dc.date.accessioned2014-11-26T02:12:12Z
dc.date.available2014-11-26T02:12:12Z
dc.date.issued2013-06-06
dc.identifier.citationLiu, X., Ong, R.T.-H., Pillai, E.N., Elzein, A.M., Small, K.S., Clark, T.G., Kwiatkowski, D.P., Teo, Y.-Y. (2013-06-06). Detecting and characterizing genomic signatures of positive selection in global populations. American Journal of Human Genetics 92 (6) : 866-881. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ajhg.2013.04.021
dc.identifier.issn00029297
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/108735
dc.description.abstractNatural selection is a significant force that shapes the architecture of the human genome and introduces diversity across global populations. The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that there exist a handful of genes such as those that confer lactase persistence, affect skin pigmentation, or cause sickle cell anemia. We have developed a long-range-haplotype method for identifying genomic signatures of positive selection to complement existing methods, such as the integrated haplotype score (iHS) or cross-population extended haplotype homozygosity (XP-EHH), for locating signals across the entire allele frequency spectrum. Our method also locates the founder haplotypes that carry the advantageous variants and infers their corresponding population frequencies. This presents an opportunity to systematically interrogate the whole human genome whether a selection signal shared across different populations is the consequence of a single mutation process followed subsequently by gene flow between populations or of convergent evolution due to the occurrence of multiple independent mutation events either at the same variant or within the same gene. The application of our method to data from 14 populations across the world revealed that positive-selection events tend to cluster in populations of the same ancestry. Comparing the founder haplotypes for events that are present across different populations revealed that convergent evolution is a rare occurrence and that the majority of shared signals stem from the same evolutionary event. © 2013 The American Society of Human Genetics.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.ajhg.2013.04.021
dc.sourceScopus
dc.typeArticle
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.description.doi10.1016/j.ajhg.2013.04.021
dc.description.sourcetitleAmerican Journal of Human Genetics
dc.description.volume92
dc.description.issue6
dc.description.page866-881
dc.description.codenAJHGA
dc.identifier.isiut000320415300004
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