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Genome assembly in the telomere-to-telomere era

De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until recently, genomes were typically assembled into fragments of a few...

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Detalles Bibliográficos
Autores principales: Li, Heng, Durbin, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cornell University 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462168/
https://www.ncbi.nlm.nih.gov/pubmed/37645045
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author Li, Heng
Durbin, Richard
author_facet Li, Heng
Durbin, Richard
author_sort Li, Heng
collection PubMed
description De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until recently, genomes were typically assembled into fragments of a few megabases at best but technological advances in long-read sequencing now enable near complete chromosome-level assembly, also known as telomere-to-telomere assembly, for many organisms. Here we review recent progress on assembly algorithms and protocols. We focus on how to derive near telomere-to-telomere assemblies and discuss potential future developments.
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spelling pubmed-104621682023-08-29 Genome assembly in the telomere-to-telomere era Li, Heng Durbin, Richard ArXiv Article De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until recently, genomes were typically assembled into fragments of a few megabases at best but technological advances in long-read sequencing now enable near complete chromosome-level assembly, also known as telomere-to-telomere assembly, for many organisms. Here we review recent progress on assembly algorithms and protocols. We focus on how to derive near telomere-to-telomere assemblies and discuss potential future developments. Cornell University 2023-08-15 /pmc/articles/PMC10462168/ /pubmed/37645045 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use.
spellingShingle Article
Li, Heng
Durbin, Richard
Genome assembly in the telomere-to-telomere era
title Genome assembly in the telomere-to-telomere era
title_full Genome assembly in the telomere-to-telomere era
title_fullStr Genome assembly in the telomere-to-telomere era
title_full_unstemmed Genome assembly in the telomere-to-telomere era
title_short Genome assembly in the telomere-to-telomere era
title_sort genome assembly in the telomere-to-telomere era
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462168/
https://www.ncbi.nlm.nih.gov/pubmed/37645045
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