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Long walk to genomics: History and current approaches to genome sequencing and assembly

Genomes represent the starting point of genetic studies. Since the discovery of DNA structure, scientists have devoted great efforts to determine their sequence in an exact way. In this review we provide a comprehensive historical background of the improvements in DNA sequencing technologies that ha...

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Autores principales: Giani, Alice Maria, Gallo, Guido Roberto, Gianfranceschi, Luca, Formenti, Giulio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926122/
https://www.ncbi.nlm.nih.gov/pubmed/31890139
http://dx.doi.org/10.1016/j.csbj.2019.11.002
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author Giani, Alice Maria
Gallo, Guido Roberto
Gianfranceschi, Luca
Formenti, Giulio
author_facet Giani, Alice Maria
Gallo, Guido Roberto
Gianfranceschi, Luca
Formenti, Giulio
author_sort Giani, Alice Maria
collection PubMed
description Genomes represent the starting point of genetic studies. Since the discovery of DNA structure, scientists have devoted great efforts to determine their sequence in an exact way. In this review we provide a comprehensive historical background of the improvements in DNA sequencing technologies that have accompanied the major milestones in genome sequencing and assembly, ranging from early sequencing methods to Next-Generation Sequencing platforms. We then focus on the advantages and challenges of the current technologies and approaches, collectively known as Third Generation Sequencing. As these technical advancements have been accompanied by progress in analytical methods, we also review the bioinformatic tools currently employed in de novo genome assembly, as well as some applications of Third Generation Sequencing technologies and high-quality reference genomes.
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spelling pubmed-69261222019-12-30 Long walk to genomics: History and current approaches to genome sequencing and assembly Giani, Alice Maria Gallo, Guido Roberto Gianfranceschi, Luca Formenti, Giulio Comput Struct Biotechnol J Review Article Genomes represent the starting point of genetic studies. Since the discovery of DNA structure, scientists have devoted great efforts to determine their sequence in an exact way. In this review we provide a comprehensive historical background of the improvements in DNA sequencing technologies that have accompanied the major milestones in genome sequencing and assembly, ranging from early sequencing methods to Next-Generation Sequencing platforms. We then focus on the advantages and challenges of the current technologies and approaches, collectively known as Third Generation Sequencing. As these technical advancements have been accompanied by progress in analytical methods, we also review the bioinformatic tools currently employed in de novo genome assembly, as well as some applications of Third Generation Sequencing technologies and high-quality reference genomes. Research Network of Computational and Structural Biotechnology 2019-11-17 /pmc/articles/PMC6926122/ /pubmed/31890139 http://dx.doi.org/10.1016/j.csbj.2019.11.002 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Review Article
Giani, Alice Maria
Gallo, Guido Roberto
Gianfranceschi, Luca
Formenti, Giulio
Long walk to genomics: History and current approaches to genome sequencing and assembly
title Long walk to genomics: History and current approaches to genome sequencing and assembly
title_full Long walk to genomics: History and current approaches to genome sequencing and assembly
title_fullStr Long walk to genomics: History and current approaches to genome sequencing and assembly
title_full_unstemmed Long walk to genomics: History and current approaches to genome sequencing and assembly
title_short Long walk to genomics: History and current approaches to genome sequencing and assembly
title_sort long walk to genomics: history and current approaches to genome sequencing and assembly
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926122/
https://www.ncbi.nlm.nih.gov/pubmed/31890139
http://dx.doi.org/10.1016/j.csbj.2019.11.002
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