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Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations

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dc.contributor.author Kehdy, F.S.G.
dc.contributor.author Gouveia, M.H.
dc.contributor.author Machado, M.
dc.contributor.author Magalhães, W.C.S.
dc.contributor.author Horimoto, A.R.
dc.contributor.author Horta, B.L.
dc.contributor.author Moreira, R.G.
dc.contributor.author Leal, T.P.
dc.contributor.author Scliar, M.O.
dc.contributor.author Soares-Souza, G.B.
dc.contributor.author Rodrigues-Soares, F.
dc.contributor.author Araújo, G.S.
dc.contributor.author Zamudio, R.
dc.contributor.author Sant Anna, H.P.
dc.contributor.author Santos, H.C.
dc.contributor.author Duarte, N.E.
dc.contributor.author Fiaccone, R.L.
dc.contributor.author Figueiredo, C.A.
dc.contributor.author Silva, T.M.
dc.contributor.author Costa, G.N.O.
dc.contributor.author Beleza, S.
dc.contributor.author Berg, D.E.
dc.contributor.author Cabrera, L.
dc.contributor.author Debortoli, G.
dc.contributor.author Duarte, D.
dc.contributor.author Ghirotto, S.
dc.contributor.author Gilman, R.H.
dc.contributor.author Gonçalves, V.F.
dc.contributor.author Marrero, A.R.
dc.contributor.author Muniz, Y.C.
dc.contributor.author Weissensteiner, H.
dc.contributor.author Yeager, M.
dc.contributor.author Rodrigues, L.C.
dc.contributor.author Barreto, M.L.
dc.contributor.author Lima-Costa, M.F.
dc.contributor.author Pereira, A.C.
dc.contributor.author Rodrigues, M.R.
dc.contributor.author Tarazona-Santos, E.
dc.date.accessioned 2019-04-24T18:23:57Z
dc.date.available 2019-04-24T18:23:57Z
dc.date.issued 2015
dc.identifier.uri https://hdl.handle.net/20.500.12866/6492
dc.description.abstract While South Americans are underrepresented in human genomic diversity studies, Brazil has been a classical model for population genetics studies on admixture.We present the results of the EPIGEN Brazil Initiative, the most comprehensive up-to-date genomic analysis of any Latin-American population. A population-based genomewide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil. We showed that ancestry-positive assortative mating permeated Brazilian history. We traced European ancestry in the Southeast/South to a wider European/Middle Eastern region with respect to the Northeast, where ancestry seems restricted to Iberia. By developing an approximate Bayesian computation framework, we infer more recent European immigration to the Southeast/South than to the Northeast. Also, the observed low Native-American ancestry (6-8%) was mostly introduced in different regions of Brazil soon after the European Conquest. We broadened our understanding of the African diaspora, the major destination of which was Brazil, by revealing that Brazilians display two within-Africa ancestry components: one associated with non-Bantu/western Africans (more evident in the Northeast and African Americans) and one associated with Bantu/eastern Africans (more present in the Southeast/South). Furthermore, the whole-genome analysis of 30 individuals (42-fold deep coverage) shows that continental admixture rather than local post-Columbian history is the main and complex determinant of the individual amount of deleterious genotypes. en_US
dc.language.iso eng
dc.publisher National Academy of Sciences
dc.relation.ispartof urn:issn:1091-6490
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject African en_US
dc.subject American Indian en_US
dc.subject ancestry group en_US
dc.subject Article en_US
dc.subject assortative mating en_US
dc.subject Brazilian en_US
dc.subject deletion mutant en_US
dc.subject European en_US
dc.subject female en_US
dc.subject genetic analysis en_US
dc.subject genetic variability en_US
dc.subject genotype en_US
dc.subject human en_US
dc.subject immigration en_US
dc.subject inbreeding en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject population structure en_US
dc.subject priority journal en_US
dc.subject Black person en_US
dc.subject Brazil en_US
dc.subject Caucasian en_US
dc.subject genetics en_US
dc.subject mutation en_US
dc.subject population genetics en_US
dc.subject African Continental Ancestry Group en_US
dc.subject Brazil en_US
dc.subject European Continental Ancestry Group en_US
dc.subject Genetics, Population en_US
dc.subject Humans en_US
dc.subject Mutation en_US
dc.title Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1073/pnas.1504447112
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.03.09
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02

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