Genomics

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Genomic Epidemiology of Complex Diseases in Population-based Brazilian Cohorts


ABSTRACT: The EPIGEN-Brasil Initiative is so far the largest Latin American initiative in population genomics and genetic epidemiology. Its main goal is to study the association between genetic variants found in the Brazilian population and complex diseases, taking into account one of the most important characteristics of this population: its admixture. Population genetic include genomewide genotyping of 6487 individuals and high-resolution whole genome sequencing from 30 individuals from three population-based Brazilian cohorts: Salvador, Bambuí and Pelotas. More information about the population-based cohorts are available on: For the 1982 Pelotas birth cohort study in Victora and Barros 2006 (PMID 16373375); For the Bambui cohort study of aging in LIma-Costa MF et al. (2011) (PMID 20805109); For the Salvador-Scaala study in Barreto et al. (2006) (PMID 16796729)

PROVIDER: EGAS00001001245 | EGA |

REPOSITORIES: EGA

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Publications

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

Kehdy Fernanda S G FS   Gouveia Mateus H MH   Machado Moara M   Magalhães Wagner C S WC   Horimoto Andrea R AR   Horta Bernardo L BL   Moreira Rennan G RG   Leal Thiago P TP   Scliar Marilia O MO   Soares-Souza Giordano B GB   Rodrigues-Soares Fernanda F   Araújo Gilderlanio S GS   Zamudio Roxana R   Sant Anna Hanaisa P HP   Santos Hadassa C HC   Duarte Nubia E NE   Fiaccone Rosemeire L RL   Figueiredo Camila A CA   Silva Thiago M TM   Costa Gustavo N O GN   Beleza Sandra S   Berg Douglas E DE   Cabrera Lilia L   Debortoli Guilherme G   Duarte Denise D   Ghirotto Silvia S   Gilman Robert H RH   Gonçalves Vanessa F VF   Marrero Andrea R AR   Muniz Yara C YC   Weissensteiner Hansi H   Yeager Meredith M   Rodrigues Laura C LC   Barreto Mauricio L ML   Lima-Costa M Fernanda MF   Pereira Alexandre C AC   Rodrigues Maíra R MR   Tarazona-Santos Eduardo E  

Proceedings of the National Academy of Sciences of the United States of America 20150629 28


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 genome-wide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three population  ...[more]

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