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Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil

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dc.contributor.author Naslavsky, Michel S
dc.contributor.author Scliar, Marilia O
dc.contributor.author Yamamoto, Guilherme L
dc.contributor.author Wang, Jaqueline Yu Ting
dc.contributor.author Zverinova, Stepanka
dc.contributor.author Karp, Tatiana
dc.contributor.author Nunes, Kelly
dc.contributor.author Ceroni, Jose Ricardo Magliocco
dc.contributor.author de Carvalho, Diego Lima
dc.contributor.author da Silva Simoes, Carlos Eduardo
dc.contributor.author Bozoklian, Daniel
dc.contributor.author Nonaka, Ricardo
dc.contributor.author Dos Santos Brito Silva, Nayane
dc.contributor.author da Silva Souza, Andreia
dc.contributor.author de Souza Andrade, Heloisa
dc.contributor.author Passos, Marilia Rodrigues Silva
dc.contributor.author Castro, Camila Ferreira Bannwart
dc.contributor.author Mendes-Junior, Celso T
dc.contributor.author Mercuri, Rafael L V
dc.contributor.author Miller, Thiago L A
dc.contributor.author Buzzo, Jose Leonel
dc.contributor.author Rego, Fernanda O
dc.contributor.author Araujo, Nathalia M
dc.contributor.author Magalhaes, Wagner C S
dc.contributor.author Mingroni-Netto, Regina Celia
dc.contributor.author Borda, Victor
dc.contributor.author Guio, Heinner
dc.contributor.author Rojas, Carlos P
dc.contributor.author Sanchez, Cesar
dc.contributor.author Caceres, Omar
dc.contributor.author Dean, Michael
dc.contributor.author Barreto, Mauricio L
dc.contributor.author Lima-Costa, Maria Fernanda
dc.contributor.author Horta, Bernardo L
dc.contributor.author Tarazona-Santos, Eduardo
dc.contributor.author Meyer, Diogo
dc.contributor.author Galante, Pedro A F
dc.contributor.author Guryev, Victor
dc.contributor.author Castelli, Erick C
dc.contributor.author Duarte, Yeda A O
dc.contributor.author Passos-Bueno, Maria Rita
dc.contributor.author Zatz, Mayana
dc.date.accessioned 2022-03-23T16:54:21Z
dc.date.available 2022-03-23T16:54:21Z
dc.date.issued 2022
dc.identifier.uri https://hdl.handle.net/20.500.12866/11497
dc.description.abstract As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS. en_US
dc.language.iso eng
dc.publisher Springer Nature
dc.relation.ispartofseries Nature Communications
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Data publication and archiving en_US
dc.subject Haplotypes en_US
dc.subject Mobile elements en_US
dc.subject Rare variants en_US
dc.subject Structural variation en_US
dc.title Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s41467-022-28648-3
dc.relation.issn 2041-1723


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