Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics

Detalhes bibliográficos
Autor(a) principal: Pereira, R
Data de Publicação: 2020
Outros Autores: Oliveira, J, Sousa, M
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://hdl.handle.net/10216/145260
Resumo: Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. First, we will review the current NGS platforms, focusing on the two main platforms Illumina and Ion Torrent, and discussing the major strong points and weaknesses intrinsic to each platform. Next, the NGS analytical bioinformatic pipelines are dissected, giving some emphasis to the algorithms commonly used to generate process data and to analyze sequence variants. Finally, the main challenges around NGS bioinformatics are placed in perspective for future developments. Even with the huge achievements made in NGS technology and bioinformatics, further improvements in bioinformatic algorithms are still required to deal with complex and genetically heterogeneous disorders.
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spelling Bioinformatics and computational tools for next-generation sequencing analysis in clinical geneticsBioinformaticsClinical geneticsHigh throughput dataNGS pipelineNGS platformsClinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. First, we will review the current NGS platforms, focusing on the two main platforms Illumina and Ion Torrent, and discussing the major strong points and weaknesses intrinsic to each platform. Next, the NGS analytical bioinformatic pipelines are dissected, giving some emphasis to the algorithms commonly used to generate process data and to analyze sequence variants. Finally, the main challenges around NGS bioinformatics are placed in perspective for future developments. Even with the huge achievements made in NGS technology and bioinformatics, further improvements in bioinformatic algorithms are still required to deal with complex and genetically heterogeneous disorders.MDPI20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/145260eng2077-038310.3390/jcm9010132Pereira, ROliveira, JSousa, Minfo: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:RCAAP2023-11-29T15:06:23Zoai:repositorio-aberto.up.pt:10216/145260Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T00:15:44.608663Repositório 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 Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
title Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
spellingShingle Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Pereira, R
Bioinformatics
Clinical genetics
High throughput data
NGS pipeline
NGS platforms
title_short Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
title_full Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
title_fullStr Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
title_full_unstemmed Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
title_sort Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
author Pereira, R
author_facet Pereira, R
Oliveira, J
Sousa, M
author_role author
author2 Oliveira, J
Sousa, M
author2_role author
author
dc.contributor.author.fl_str_mv Pereira, R
Oliveira, J
Sousa, M
dc.subject.por.fl_str_mv Bioinformatics
Clinical genetics
High throughput data
NGS pipeline
NGS platforms
topic Bioinformatics
Clinical genetics
High throughput data
NGS pipeline
NGS platforms
description Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care/treatment for patients. Next-generation sequencing (NGS) has transformed clinical genetics making possible to analyze hundreds of genes at an unprecedented speed and at a lower price when comparing to conventional Sanger sequencing. Despite the growing literature concerning NGS in a clinical setting, this review aims to fill the gap that exists among (bio)informaticians, molecular geneticists and clinicians, by presenting a general overview of the NGS technology and workflow. First, we will review the current NGS platforms, focusing on the two main platforms Illumina and Ion Torrent, and discussing the major strong points and weaknesses intrinsic to each platform. Next, the NGS analytical bioinformatic pipelines are dissected, giving some emphasis to the algorithms commonly used to generate process data and to analyze sequence variants. Finally, the main challenges around NGS bioinformatics are placed in perspective for future developments. Even with the huge achievements made in NGS technology and bioinformatics, further improvements in bioinformatic algorithms are still required to deal with complex and genetically heterogeneous disorders.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10216/145260
url https://hdl.handle.net/10216/145260
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2077-0383
10.3390/jcm9010132
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dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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