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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cornell University
2023
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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. |
format | Online Article Text |
id | pubmed-10462168 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cornell University |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT liheng genomeassemblyinthetelomeretotelomereera AT durbinrichard genomeassemblyinthetelomeretotelomereera |