Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final

Detalhes bibliográficos
Autor(a) principal: Nogueira, Celia
Data de Publicação: 2018
Outros Autores: Laura, Vilarinho
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/6374
Resumo: Goal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.
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spelling Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório finalMitochondrial DiseasesmtDNANext Generation SequencingNGSDoenças MitocondriaisDoenças GenéticasGoal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.FCT - PTDC/DTP-PIC/2220/2014Repositório Científico do Instituto Nacional de SaúdeNogueira, CeliaLaura, Vilarinho2019-04-09T15:03:27Z2018-12-312018-12-31T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reportapplication/pdfhttp://hdl.handle.net/10400.18/6374enginfo:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:23Zoai:repositorio.insa.pt:10400.18/6374Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:01.753789Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
title Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
spellingShingle Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
Nogueira, Celia
Mitochondrial Diseases
mtDNA
Next Generation Sequencing
NGS
Doenças Mitocondriais
Doenças Genéticas
title_short Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
title_full Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
title_fullStr Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
title_full_unstemmed Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
title_sort Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
author Nogueira, Celia
author_facet Nogueira, Celia
Laura, Vilarinho
author_role author
author2 Laura, Vilarinho
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Nogueira, Celia
Laura, Vilarinho
dc.subject.por.fl_str_mv Mitochondrial Diseases
mtDNA
Next Generation Sequencing
NGS
Doenças Mitocondriais
Doenças Genéticas
topic Mitochondrial Diseases
mtDNA
Next Generation Sequencing
NGS
Doenças Mitocondriais
Doenças Genéticas
description Goal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.
publishDate 2018
dc.date.none.fl_str_mv 2018-12-31
2018-12-31T00:00:00Z
2019-04-09T15:03:27Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/6374
url http://hdl.handle.net/10400.18/6374
dc.language.iso.fl_str_mv eng
language eng
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eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
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instacron_str RCAAP
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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