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The Application of Long-Read Sequencing to Cancer.
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- Author(s): Ermini, Luca; Driguez, Patrick
- Source:
Cancers; Apr2024, Vol. 16 Issue 7, p1275, 20p- Subject Terms:
- Source:
- Additional Information
- Abstract: Simple Summary: Cancer is a complex disease caused by a slew of genetic mutations discovered through advances in sequencing technologies such as next-generation sequencing. While this technology has been useful, it can only retrieve genomic information through short reads or sequences, which is a limitation. A new sequencing technology known as third-generation sequencing overcomes this limitation by using much longer reads. This is a game changer for cancer research, diagnosis and treatment. Third-generation sequencing enables the decipherment of complex genomic rearrangements, resulting in a better understanding of how cancer develops, as well as the examination of the entire transcriptome, revealing isoforms that could be used in diagnostics or treatment. Third-generation sequencing enhances cancer genome assembly, detects epigenetic changes, and can provide a comprehensive picture of a patient's specific cancer aberrations. This has the potential to lead to more effective treatments with fewer adverse effects. This review provides a rigorous scientific analysis of the advantages and limitations of third-generation sequencing, emphasizing its potential for the future of cancer research and personalized medicine. Although this is still a developing technology, it has enormous potential for research and clinical applications, ultimately leading to improved cancer diagnosis and treatment. Cancer is a multifaceted disease arising from numerous genomic aberrations that have been identified as a result of advancements in sequencing technologies. While next-generation sequencing (NGS), which uses short reads, has transformed cancer research and diagnostics, it is limited by read length. Third-generation sequencing (TGS), led by the Pacific Biosciences and Oxford Nanopore Technologies platforms, employs long-read sequences, which have marked a paradigm shift in cancer research. Cancer genomes often harbour complex events, and TGS, with its ability to span large genomic regions, has facilitated their characterisation, providing a better understanding of how complex rearrangements affect cancer initiation and progression. TGS has also characterised the entire transcriptome of various cancers, revealing cancer-associated isoforms that could serve as biomarkers or therapeutic targets. Furthermore, TGS has advanced cancer research by improving genome assemblies, detecting complex variants, and providing a more complete picture of transcriptomes and epigenomes. This review focuses on TGS and its growing role in cancer research. We investigate its advantages and limitations, providing a rigorous scientific analysis of its use in detecting previously hidden aberrations missed by NGS. This promising technology holds immense potential for both research and clinical applications, with far-reaching implications for cancer diagnosis and treatment. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Cancers is the property of MDPI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Abstract:
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