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| 长读长测序技术在肿瘤领域中的应用：进展与挑战 |
| 杨谨衔1,2,3,陈淑桢2,3,王红阳2,3,文文1,2,3* |
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(1. 海军军医大学(第二军医大学)第三附属医院实验诊断科, 上海 200438;
2. 海军军医大学(第二军医大学)国家肝癌科学中心, 上海 200438;
3. 海军军医大学(第二军医大学)第三附属医院国际合作生物信号转导研究室, 上海 200438
*通信作者) |
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| 摘要: |
| 相较于目前普遍应用的二代测序（NGS）技术，长读长测序（LRS）技术是一种能够连续读取数百万个碱基对的测序技术。本文回顾了单分子实时测序技术、牛津纳米孔测序技术和新型单分子LRS技术在肿瘤领域的研究应用。LRS技术能够更精确地检测肿瘤基因组变异，包括结构变异、拷贝数变化、基因融合等。除基因组变异检测外，LRS技术还为描绘转录组图谱、表观遗传修饰图谱提供了有效手段。LRS技术可以有效弥补NGS技术的部分技术瓶颈，深入揭示生物大分子在健康和疾病状态下的复杂性状，为更好地理解肿瘤的发生与发展机制、制定治疗策略和开发药物提供新的理论基础。此外，本文还展望了LRS技术在肿瘤领域临床应用中的潜在价值。 |
| 关键词: 长读长测序 单分子测序 纳米孔测序 肿瘤 |
| DOI：10.16781/j.CN31-2187/R.20220923 |
| 投稿时间：2022-12-05修订日期：2023-02-15 |
| 基金项目: |
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| Application of long-read sequencing in oncology: progress and challenges |
| YANG Jin-xian1,2,3,CHEN Shu-zhen2,3,WANG Hong-yang2,3,WEN Wen1,2,3* |
(1. Department of Laboratory Medicine, The Third Affiliated Hospital of Naval Medical University (Second Military Medical University), Shanghai 200438, China;
2. National Center for Liver Cancer, Naval Medical University (Second Military Medical University), Shanghai 200438, China;
3. International Cooperation Laboratory on Signal Transduction, The Third Affiliated Hospital of Naval Medical University (Second Military Medical University), Shanghai 200438, China
*Corresponding author) |
| Abstract: |
| Compared to the commonly used second-generation sequencing (NGS), long-read sequencing (LRS) is capable of continuously reading millions of base pairs. This article reviews the recent progress in the applications of single-molecule real-time sequencing technologies, Oxford nanopore sequencing technologies and novel single-molecule LRS technologies. LRS technologies facilitate the detection of genomic variations, including structural variations, copy number changes, gene fusions, etc. Moreover, LRS technologies provide an effective tool for profiling transcriptome and epigenetic modification. LRS can also solve part of the technical bottleneck of the NGS and help to reveal the complexity of biological macromolecule in health and disease conditions, which may provide a new theoretical basis for better understanding the mechanisms of carcinogenesis and malignant progression, subsequently leading to development of novel therapeutic strategies and drugs. Besides, this review outlines the potential advantages of the application of LRS in clinical practice of oncology. |
| Key words: long-read sequencing single-molecule sequencing nanopore sequencing neoplasms |
