Decoding the Human Genome

Detalhes bibliográficos
Autor(a) principal: Fernandes da Rocha, Diogo
Data de Publicação: 2023
Outros Autores: Rocha, Gustavo, Louro, Pedro
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v32.i3.27586
Resumo: The neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?
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spelling Decoding the Human GenomeDescodificando o Genoma HumanoReview ArticlesThe neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?O neonatologista é frequentemente o primeiro clínico a confrontar-se com condições genéticas não diagnosticadas no período pré-natal. Os avanços tecnológicos no campo da genética nas últimas décadas trouxeram possibilidades nunca antes imaginadas. Distantes estão os tempos em que pouco mais poderia ser oferecido aos doentes do que um cariótipo de sangue periférico. Metodologias mais recentes, como hibridização genómica comparativa ou sequenciação de Sanger e sequenciação de nova geração, permitem analisar mais detalhadamente o genoma humano, quer ao nível dos grandes rearranjos (deleções, duplicações), quer de variantes pontuais potencialmente patogénicas. Estas tecnologias de ponta têm sido úteis na descoberta de genes implicados em doenças há muito entendidas como de origem genética, mas cuja etiologia permanecia desconhecida. Apesar dos bons presságios, nenhum método é autossuficiente e todos apresentam as suas limitações. O objetivo desta revisão é atualizar os clínicos sobre os testes genéticos atualmente disponíveis e utilizados. Recordando que o primeiro genoma humano foi sequenciado há pouco mais de vinte anos, que novidades trarão os próximos vinte?Centro Hospitalar Universitário de Santo António2023-11-16info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v32.i3.27586eng2183-9417Fernandes da Rocha, DiogoRocha, GustavoLouro, Pedroinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-16T17:28:52Zoai:ojs.revistas.rcaap.pt:article/27586Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:53:51.996589Repositório 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 Decoding the Human Genome
Descodificando o Genoma Humano
title Decoding the Human Genome
spellingShingle Decoding the Human Genome
Fernandes da Rocha, Diogo
Review Articles
title_short Decoding the Human Genome
title_full Decoding the Human Genome
title_fullStr Decoding the Human Genome
title_full_unstemmed Decoding the Human Genome
title_sort Decoding the Human Genome
author Fernandes da Rocha, Diogo
author_facet Fernandes da Rocha, Diogo
Rocha, Gustavo
Louro, Pedro
author_role author
author2 Rocha, Gustavo
Louro, Pedro
author2_role author
author
dc.contributor.author.fl_str_mv Fernandes da Rocha, Diogo
Rocha, Gustavo
Louro, Pedro
dc.subject.por.fl_str_mv Review Articles
topic Review Articles
description The neonatologist is often the first clinician to identify genetic disorders without prenatal diagnosis. Technological advances in genetics over the past few decades have opened up possibilities never before imagined. Gone are the days when we could offer our patients little more than a peripheral blood karyotype. Newer methods, such as comparative genomic hybridization or Sanger sequencing and next-generation sequencing, allow a more detailed analysis of the human genome, both at the level of large rearrangements (deletions, duplications) and potentially pathogenic point variants. High-tech technologies have been useful in uncovering genes involved in diseases that have long been known to have a genetic origin, but whose etiology has remained elusive. Despite the promise of these technologies, no method is self-sufficient, and all have limitations. The aim of this review is to update clinicians on the genetic tests that are currently available and in use. Given that the first human genome was sequenced just over twenty years ago, what news will the next twenty years bring?
publishDate 2023
dc.date.none.fl_str_mv 2023-11-16
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dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v32.i3.27586
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language eng
dc.relation.none.fl_str_mv 2183-9417
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dc.publisher.none.fl_str_mv Centro Hospitalar Universitário de Santo António
publisher.none.fl_str_mv Centro Hospitalar Universitário de Santo António
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