Global diversity, population stratification, and selection of human copy number variation

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cic.isFulltexttruees
cic.isPeerReviewedtruees
cic.lugarDesarrolloInstituto Multidisciplinario de Biología Celular es
cic.versioninfo:eu-repo/semantics/submittedVersiones
dc.date.accessioned2016-09-20T14:54:15Z
dc.date.available2016-09-20T14:54:15Z
dc.identifier.urihttps://digital.cic.gba.gob.ar/handle/11746/4263
dc.titleGlobal diversity, population stratification, and selection of human copy number variationen
dc.typeArtículoes
dcterms.abstractIn order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.en
dcterms.creator.authorSudmant, Peter H.es
dcterms.creator.authorMallick, Swapanes
dcterms.creator.authorNelson, Bradley J.es
dcterms.creator.authorHormozdiari, Fereydounes
dcterms.creator.authorKrumm, Niklases
dcterms.creator.authorHuddleston, Johnes
dcterms.creator.authorCoe, Bradley P.es
dcterms.creator.authorBaker, Carles
dcterms.creator.authorNordenfelt, Susannees
dcterms.creator.authorBamshad, Michaeles
dcterms.creator.authorJorde, Lynn B.es
dcterms.creator.authorPosukh, Olga L.es
dcterms.creator.authorSahakyan, Hovhanneses
dcterms.creator.authorWatkins, Scottes
dcterms.creator.authorYepiskoposyan, Levones
dcterms.creator.authorAbdullah, M. Syafiqes
dcterms.creator.authorBravi, Claudio M.es
dcterms.creator.authorCapelli, Cristianes
dcterms.creator.authorHervig, Tores
dcterms.creator.authorWee, Joseph T. S.es
dcterms.creator.authorTyler-Smith, Chrises
dcterms.creator.authorvan Driem, Georgees
dcterms.creator.authorGallego Romero, Irenees
dcterms.creator.authorJha, Aashish R.es
dcterms.creator.authorKarachanak-Yankova, Senaes
dcterms.creator.authorToncheva, Dragaes
dcterms.creator.authorComas, Davides
dcterms.creator.authorHenn, Brennaes
dcterms.creator.authorKivisild, Toomases
dcterms.creator.authorRuiz-Linares, Andreses
dcterms.creator.authorSajantila, Antties
dcterms.creator.authorMetspalu, Enees
dcterms.creator.authorParik, Jüries
dcterms.creator.authorVillems, Richardes
dcterms.creator.authorStarikovskaya, Elena B.es
dcterms.creator.authorAyodo, Georgees
dcterms.creator.authorBeall, Cynthia M.es
dcterms.creator.authorDi Rienzo, Annaes
dcterms.creator.authorHammer, Michaeles
dcterms.creator.authorKhusainova, Ritaes
dcterms.creator.authorKhusnutdinova, Elzaes
dcterms.creator.authorKlitz, Williames
dcterms.creator.authorWinkler, Cheryles
dcterms.creator.authorLabuda, Damianes
dcterms.creator.authorMetspalu, Maites
dcterms.creator.authorTishkoff, Sarah A.es
dcterms.creator.authorDryomov, Stanislaves
dcterms.creator.authorSukernik, Remes
dcterms.creator.authorPatterson, Nickes
dcterms.creator.authorReich, Davides
dcterms.creator.authorEichler, Evan E.es
dcterms.extent16 p.es
dcterms.isPartOf.issuevol. 349, no. 6253es
dcterms.isPartOf.seriesSciencees
dcterms.issued2015
dcterms.languageIngléses
dcterms.licenseAttribution 4.0 International (BY 4.0)es
dcterms.subjectglobal diversityen
dcterms.subjectpopulation stratificationen
dcterms.subjectselection of human copy number variationen
dcterms.subject.materiaBiología Celular, Microbiologíaes

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