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Deciphering Neurodegenerative Diseases Using Long-Read Sequencing

Neurodegenerative diseases exhibit chronic progressive lesions in the central and peripheral nervous systems with unclear causes. The search for pathogenic mutations in human neurodegenerative diseases has benefited from massively parallel short-read sequencers. However, genomic regions, including r...

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Autores principales: Su, Yun, Fan, Liyuan, Shi, Changhe, Wang, Tai, Zheng, Huimin, Luo, Haiyang, Zhang, Shuo, Hu, Zhengwei, Fan, Yu, Dong, Yali, Yang, Jing, Mao, Chengyuan, Xu, Yuming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408508/
https://www.ncbi.nlm.nih.gov/pubmed/34389649
http://dx.doi.org/10.1212/WNL.0000000000012466
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author Su, Yun
Fan, Liyuan
Shi, Changhe
Wang, Tai
Zheng, Huimin
Luo, Haiyang
Zhang, Shuo
Hu, Zhengwei
Fan, Yu
Dong, Yali
Yang, Jing
Mao, Chengyuan
Xu, Yuming
author_facet Su, Yun
Fan, Liyuan
Shi, Changhe
Wang, Tai
Zheng, Huimin
Luo, Haiyang
Zhang, Shuo
Hu, Zhengwei
Fan, Yu
Dong, Yali
Yang, Jing
Mao, Chengyuan
Xu, Yuming
author_sort Su, Yun
collection PubMed
description Neurodegenerative diseases exhibit chronic progressive lesions in the central and peripheral nervous systems with unclear causes. The search for pathogenic mutations in human neurodegenerative diseases has benefited from massively parallel short-read sequencers. However, genomic regions, including repetitive elements, especially with high/low GC content, are far beyond the capability of conventional approaches. Recently, long-read single-molecule DNA sequencing technologies have emerged and enabled researchers to study genomes, transcriptomes, and metagenomes at unprecedented resolutions. The identification of novel mutations in unresolved neurodegenerative disorders, the characterization of causative repeat expansions, and the direct detection of epigenetic modifications on naive DNA by virtue of long-read sequencers will further expand our understanding of neurodegenerative diseases. In this article, we review and compare 2 prevailing long-read sequencing technologies, Pacific Biosciences and Oxford Nanopore Technologies, and discuss their applications in neurodegenerative diseases.
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spelling pubmed-84085082021-09-01 Deciphering Neurodegenerative Diseases Using Long-Read Sequencing Su, Yun Fan, Liyuan Shi, Changhe Wang, Tai Zheng, Huimin Luo, Haiyang Zhang, Shuo Hu, Zhengwei Fan, Yu Dong, Yali Yang, Jing Mao, Chengyuan Xu, Yuming Neurology Review Neurodegenerative diseases exhibit chronic progressive lesions in the central and peripheral nervous systems with unclear causes. The search for pathogenic mutations in human neurodegenerative diseases has benefited from massively parallel short-read sequencers. However, genomic regions, including repetitive elements, especially with high/low GC content, are far beyond the capability of conventional approaches. Recently, long-read single-molecule DNA sequencing technologies have emerged and enabled researchers to study genomes, transcriptomes, and metagenomes at unprecedented resolutions. The identification of novel mutations in unresolved neurodegenerative disorders, the characterization of causative repeat expansions, and the direct detection of epigenetic modifications on naive DNA by virtue of long-read sequencers will further expand our understanding of neurodegenerative diseases. In this article, we review and compare 2 prevailing long-read sequencing technologies, Pacific Biosciences and Oxford Nanopore Technologies, and discuss their applications in neurodegenerative diseases. Lippincott Williams & Wilkins 2021-08-31 /pmc/articles/PMC8408508/ /pubmed/34389649 http://dx.doi.org/10.1212/WNL.0000000000012466 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Review
Su, Yun
Fan, Liyuan
Shi, Changhe
Wang, Tai
Zheng, Huimin
Luo, Haiyang
Zhang, Shuo
Hu, Zhengwei
Fan, Yu
Dong, Yali
Yang, Jing
Mao, Chengyuan
Xu, Yuming
Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title_full Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title_fullStr Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title_full_unstemmed Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title_short Deciphering Neurodegenerative Diseases Using Long-Read Sequencing
title_sort deciphering neurodegenerative diseases using long-read sequencing
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408508/
https://www.ncbi.nlm.nih.gov/pubmed/34389649
http://dx.doi.org/10.1212/WNL.0000000000012466
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