Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil
| Autor(a) principal: | |
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| Data de Publicação: | 2022 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Outros |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/56246 |
| Resumo: | University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/University of São Paulo. Biosciences Institute. Department of Genetics and Evolutionary Biology. São Paulo, SP, Brazil/ Hospital Israelita Albert Einstein. São Paulo, SP, Brazil. |
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Naslavsky, Michel SScliar, Marilia OYamamoto, Guilherme LWang, Jaqueline Yu TingZverinova, StepankaKarp, TatianaNunes, KellyCeroni, José Ricardo MaglioccoCarvalho, Diego Lima deSimões, Carlos Eduardo da SilvaBozoklian, DanielNonaka, RicardoSilva, Nayane Dos Santos BritoSouza, Andreia da SilvaAndrade, Heloísa de SouzaPassos, Marília Rodrigues SilvaCastro, Camila Ferreira BannwartMendes-Junior, Celso TMercuri, Rafael L VMiller, Thiago L ABuzzo, Jose LeonelRego, Fernanda OAraújo, Nathalia MMagalhães, Wagner C SMingroni-Netto, Regina CéliaBorda, VictorGuio, HeinnerRojas, Carlos PSanchez, CesarCaceres, OmarDean, MichaelBarreto, Mauricio LLima-Costa, Maria FernandaHorta, Bernardo LTarazona-Santos, EduardoMeyer, DiogoGalante, Pedro A FGuryev, VictorCastelli, Erick CDuarte, Yeda A OPassos-Bueno, Maria RitaZatz, Mayana2023-01-02T14:20:17Z2023-01-02T14:20:17Z2022NASLAVSKY, Michel S et al. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun., v. 13, n. 1, 1004, 2022. doi: 10.1038/s41467-022-28648-3.2041-1723https://www.arca.fiocruz.br/handle/icict/56246engNature Pub. GroupWhole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/otherUniversity of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/University of São Paulo. Biosciences Institute. Department of Genetics and Evolutionary Biology. São Paulo, SP, Brazil/ Hospital Israelita Albert Einstein. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/Faculdade de Medicina da Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brazil/Orthopedic Research Labs. Boston Children's Hospital and Department of Genetics. Harvard Medical School. Boston, MA, USA/Laboratório DASA. São Paulo, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, BrazilLaboratory of Genome Structure and Ageing. European Research Institute for the Biology of Ageing, University Medical Center Groningen, Groningen, NetherlandsLaboratory of Genome Structure and Ageing. European Research Institute for the Biology of Ageing, University Medical Center Groningen, Groningen, NetherlandsDepartment of Genetics and Evolutionary Biology. Biosciences Institute. University of São Paulo. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil/ São Paulo State University. Department of Pathology. School of Medicine. Botucatu, SP, Brazil.Universidade de São Paulo. Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto. Departamento de Química. Ribeirão Preto, São Paulo, Brazil.Hospital Sirio-Libanes. Centro de Oncologia Molecular. São Paulo, Brazil/Department of Biochemistry. Institute of Chemistry. University of São Paulo São Paulo. São Paulo, Brazil/Bioinformatics Graduate program. University of São Paulo. São Paulo, Brazil.Hospital Sirio-Libanes. Centro de Oncologia Molecular. São Paulo, Brazil/Department of Biochemistry. Institute of Chemistry. University of São Paulo São Paulo. São Paulo, BrazilHospital Sirio-Libanes. Centro de Oncologia Molecular. São Paulo, Brazil/Department of Biochemistry. Institute of Chemistry. University of São Paulo São Paulo. São Paulo, BrazilHospital Sirio-Libanes. Centro de Oncologia Molecular. São Paulo, BrazilUniversidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Belo Horizonte, MG, Brazil.Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Belo Horizonte, MG, Brazil/Instituto Mário Penna. Núcleo de Ensino e Pesquisa. Belo Horizonte, MG, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/Department of Genetics and Evolutionary Biology. Biosciences Institute. University of São Paulo. São Paulo, SP, Brazil.Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Belo Horizonte, MG, Brazil.Laboratorio de Biotecnologia y Biologia Molecular. Instituto Nacional de Salud, Lima, Peru/Universidad de Huánuco. Huánuco, Peru.Laboratorio de Biotecnologia y Biologia Molecular. Instituto Nacional de Salud, Lima, Peru.Laboratorio de Biotecnologia y Biologia Molecular. Instituto Nacional de Salud, Lima, Peru.Laboratorio de Biotecnologia y Biologia Molecular. Instituto Nacional de Salud, Lima, Peru.Division of Cancer Epidemiology and Genetics. National Cancer Institute. Bethesda, MD, USA.Universidade Federal da Bahia. Instituto de Saúde Coletiva. Salvador, BA, Brazil/Center for Data and Knowledge Integration for Health. Institute Gonçalo Muniz. Fundação Oswaldo Cruz. Salvador, BA, Brazil.Fundação Oswaldo Cruz. Instituto de Pesquisas René Rachou. Belo Horizonte, MG, Brazil/Universidade Federal de Minas Gerais. Belo Horizonte, MG, Brazil.Universidade Federal de Pelotas. Pelotas, RS, Brazil.Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas. Departamento de Genética, Ecologia e Evolução. Belo Horizonte, MG, Brazil/Universidade Federal de Minas Gerais. Mosaico Translational Genomics Initiative. Belo Horizonte, MG, Brazil/ Facultad de Salud Pública y Administración. Universidad Peruana Cayetano Heredia. Lima, Peru/ Universidade Federal de Minas Gerais. Instituto de Estudos Avançados Transdisciplinares. Belo Horizonte, MG, BrazilDepartment of Genetics and Evolutionary Biology. Biosciences Institute. University of São Paulo. São Paulo, SP, Brazil.Hospital Sirio-Libanes. Centro de Oncologia Molecular. São Paulo, Brazil.Laboratory of Genome Structure and Ageing. European Research Institute for the Biology of Ageing, University Medical Center Groningen, Groningen, Netherlands.São Paulo State University. Molecular Genetics and Bioinformatics Laboratory. School of Medicine. Botucatu, SP, Brazil/ São Paulo State University. Department of Pathology. School of Medicine. Botucatu, SP, Brazil.Medical-Surgical Nursing Department. School of Nursing. University of São Paulo. São Paulo, SP, Brazil/Epidemiology Department. Public Health School. University of São Paulo. São Paulo, SP, Brazil.University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/Department of Genetics and Evolutionary Biology. Biosciences Institute. University of São Paulo. São Paulo, SP, Brazil.Human Genome and Stem Cell Research Center. University of São Paulo. São Paulo, SP, Brazil/Department of Genetics and Evolutionary Biology. Biosciences Institute. University of São Paulo. São Paulo, SP, BrazilAs 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.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALWhole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.pdfWhole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.pdfapplication/pdf863215https://www.arca.fiocruz.br/bitstream/icict/56246/2/Whole-genome%20sequencing%20of%201%2c171%20elderly%20admixed%20individuals%20from%20S%c3%a3o%20Paulo%2c%20Brazil.pdf7762907bde0fffa4b8c7b33da2420a3bMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/56246/1/license.txt5a560609d32a3863062d77ff32785d58MD51icict/562462023-01-02 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| dc.title.en_US.fl_str_mv |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| title |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| spellingShingle |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil Naslavsky, Michel S |
| title_short |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| title_full |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| title_fullStr |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| title_full_unstemmed |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| title_sort |
Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil |
| author |
Naslavsky, Michel S |
| author_facet |
Naslavsky, Michel S Scliar, Marilia O Yamamoto, Guilherme L Wang, Jaqueline Yu Ting Zverinova, Stepanka Karp, Tatiana Nunes, Kelly Ceroni, José Ricardo Magliocco Carvalho, Diego Lima de Simões, Carlos Eduardo da Silva Bozoklian, Daniel Nonaka, Ricardo Silva, Nayane Dos Santos Brito Souza, Andreia da Silva Andrade, Heloísa de Souza Passos, Marília Rodrigues Silva Castro, Camila Ferreira Bannwart Mendes-Junior, Celso T Mercuri, Rafael L V Miller, Thiago L A Buzzo, Jose Leonel Rego, Fernanda O Araújo, Nathalia M Magalhães, Wagner C S Mingroni-Netto, Regina Célia Borda, Victor Guio, Heinner Rojas, Carlos P Sanchez, Cesar Caceres, Omar Dean, Michael Barreto, Mauricio L Lima-Costa, Maria Fernanda Horta, Bernardo L Tarazona-Santos, Eduardo Meyer, Diogo Galante, Pedro A F Guryev, Victor Castelli, Erick C Duarte, Yeda A O Passos-Bueno, Maria Rita Zatz, Mayana |
| author_role |
author |
| author2 |
Scliar, Marilia O Yamamoto, Guilherme L Wang, Jaqueline Yu Ting Zverinova, Stepanka Karp, Tatiana Nunes, Kelly Ceroni, José Ricardo Magliocco Carvalho, Diego Lima de Simões, Carlos Eduardo da Silva Bozoklian, Daniel Nonaka, Ricardo Silva, Nayane Dos Santos Brito Souza, Andreia da Silva Andrade, Heloísa de Souza Passos, Marília Rodrigues Silva Castro, Camila Ferreira Bannwart Mendes-Junior, Celso T Mercuri, Rafael L V Miller, Thiago L A Buzzo, Jose Leonel Rego, Fernanda O Araújo, Nathalia M Magalhães, Wagner C S Mingroni-Netto, Regina Célia Borda, Victor Guio, Heinner Rojas, Carlos P Sanchez, Cesar Caceres, Omar Dean, Michael Barreto, Mauricio L Lima-Costa, Maria Fernanda Horta, Bernardo L Tarazona-Santos, Eduardo Meyer, Diogo Galante, Pedro A F Guryev, Victor Castelli, Erick C Duarte, Yeda A O Passos-Bueno, Maria Rita Zatz, Mayana |
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author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
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Naslavsky, Michel S Scliar, Marilia O Yamamoto, Guilherme L Wang, Jaqueline Yu Ting Zverinova, Stepanka Karp, Tatiana Nunes, Kelly Ceroni, José Ricardo Magliocco Carvalho, Diego Lima de Simões, Carlos Eduardo da Silva Bozoklian, Daniel Nonaka, Ricardo Silva, Nayane Dos Santos Brito Souza, Andreia da Silva Andrade, Heloísa de Souza Passos, Marília Rodrigues Silva Castro, Camila Ferreira Bannwart Mendes-Junior, Celso T Mercuri, Rafael L V Miller, Thiago L A Buzzo, Jose Leonel Rego, Fernanda O Araújo, Nathalia M Magalhães, Wagner C S Mingroni-Netto, Regina Célia Borda, Victor Guio, Heinner Rojas, Carlos P Sanchez, Cesar Caceres, Omar Dean, Michael Barreto, Mauricio L Lima-Costa, Maria Fernanda Horta, Bernardo L Tarazona-Santos, Eduardo Meyer, Diogo Galante, Pedro A F Guryev, Victor Castelli, Erick C Duarte, Yeda A O Passos-Bueno, Maria Rita Zatz, Mayana |
| description |
University of São Paulo. Human Genome and Stem Cell Research Center. São Paulo, SP, Brazil/University of São Paulo. Biosciences Institute. Department of Genetics and Evolutionary Biology. São Paulo, SP, Brazil/ Hospital Israelita Albert Einstein. São Paulo, SP, Brazil. |
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2022 |
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2022 |
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2023-01-02T14:20:17Z |
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2023-01-02T14:20:17Z |
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NASLAVSKY, Michel S et al. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun., v. 13, n. 1, 1004, 2022. doi: 10.1038/s41467-022-28648-3. |
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https://www.arca.fiocruz.br/handle/icict/56246 |
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2041-1723 |
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NASLAVSKY, Michel S et al. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun., v. 13, n. 1, 1004, 2022. doi: 10.1038/s41467-022-28648-3. 2041-1723 |
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MD5 MD5 |
| repository.name.fl_str_mv |
Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ) |
| repository.mail.fl_str_mv |
repositorio.arca@fiocruz.br |
| _version_ |
1822792014524055552 |
