Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

Detalhes bibliográficos
Autor(a) principal: Cambraia, Amanda
Data de Publicação: 2021
Outros Autores: Campos Junior, Mario, Zembrzuski, Verônica Marques, Junqueira, Ricardo Magrani, Cabello, Pedro Hernán, Cabello, Giselda Maria Kalil de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/46616
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil.
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spelling Cambraia, AmandaCampos Junior, MarioZembrzuski, Verônica MarquesJunqueira, Ricardo MagraniCabello, Pedro HernánCabello, Giselda Maria Kalil de2021-04-09T20:17:18Z2021-04-09T20:17:18Z2021CAMBRAIA, Amanda et al. Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort. Disease Markers, v. 2021, Article ID 9812074, 8p, 2021.0278-0240https://www.arca.fiocruz.br/handle/icict/4661610.1155/2021/9812074engHindawiSequenciamentoPróxima geraçãoDiagnóstico molecularCoorte brasileiraMolecular DiagnosisCystic FibrosisNext-Generation SequencingBrazilian CohortNext-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohortinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Zoonoses Bacterianas. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade do Grande Rio. Escola de Ciências da Saúde. Laboratório de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil.Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs∗37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/46616/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALPedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdfPedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdfapplication/pdf602155https://www.arca.fiocruz.br/bitstream/icict/46616/2/PedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdf9e4a460361c3c9e0a9686b1ee7919fd4MD52TEXTPedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdf.txtPedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdf.txtExtracted 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dc.title.pt_BR.fl_str_mv Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
title Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
spellingShingle Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
Cambraia, Amanda
Sequenciamento
Próxima geração
Diagnóstico molecular
Coorte brasileira
Molecular Diagnosis
Cystic Fibrosis
Next-Generation Sequencing
Brazilian Cohort
title_short Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
title_full Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
title_fullStr Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
title_full_unstemmed Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
title_sort Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort
author Cambraia, Amanda
author_facet Cambraia, Amanda
Campos Junior, Mario
Zembrzuski, Verônica Marques
Junqueira, Ricardo Magrani
Cabello, Pedro Hernán
Cabello, Giselda Maria Kalil de
author_role author
author2 Campos Junior, Mario
Zembrzuski, Verônica Marques
Junqueira, Ricardo Magrani
Cabello, Pedro Hernán
Cabello, Giselda Maria Kalil de
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Cambraia, Amanda
Campos Junior, Mario
Zembrzuski, Verônica Marques
Junqueira, Ricardo Magrani
Cabello, Pedro Hernán
Cabello, Giselda Maria Kalil de
dc.subject.other.pt_BR.fl_str_mv Sequenciamento
Próxima geração
Diagnóstico molecular
Coorte brasileira
topic Sequenciamento
Próxima geração
Diagnóstico molecular
Coorte brasileira
Molecular Diagnosis
Cystic Fibrosis
Next-Generation Sequencing
Brazilian Cohort
dc.subject.en.pt_BR.fl_str_mv Molecular Diagnosis
Cystic Fibrosis
Next-Generation Sequencing
Brazilian Cohort
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Programa de Pós-Graduação em Biologia Celular e Molecular. Rio de Janeiro, RJ, Brasil.
publishDate 2021
dc.date.accessioned.fl_str_mv 2021-04-09T20:17:18Z
dc.date.available.fl_str_mv 2021-04-09T20:17:18Z
dc.date.issued.fl_str_mv 2021
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv CAMBRAIA, Amanda et al. Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort. Disease Markers, v. 2021, Article ID 9812074, 8p, 2021.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/46616
dc.identifier.issn.pt_BR.fl_str_mv 0278-0240
dc.identifier.doi.none.fl_str_mv 10.1155/2021/9812074
identifier_str_mv CAMBRAIA, Amanda et al. Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort. Disease Markers, v. 2021, Article ID 9812074, 8p, 2021.
0278-0240
10.1155/2021/9812074
url https://www.arca.fiocruz.br/handle/icict/46616
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Hindawi
publisher.none.fl_str_mv Hindawi
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/46616/1/license.txt
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https://www.arca.fiocruz.br/bitstream/icict/46616/3/PedroCabello_RicardoMJunqueiera_etal_IOC_2021.pdf.txt
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