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.
癌症是一种由多种基因组异常引发的复杂疾病，这些异常随着测序技术的进步而被逐步揭示。以短读长为特点的第二代测序技术虽已革新癌症研究与诊断领域，但其读长限制仍存在不足。以太平洋生物科学公司和牛津纳米孔技术平台为代表的第三代测序技术采用长读长测序，标志着癌症研究范式的重大转变。癌症基因组常包含复杂变异事件，而第三代测序凭借其跨越大型基因组区域的能力，有效促进了这些变异的解析，使人们能更深入理解复杂基因组重排如何影响癌症的发生与发展。该技术还全面表征了多种癌症的转录组特征，揭示了可作为生物标志物或治疗靶点的癌症相关异构体。此外，通过优化基因组组装、检测复杂变异、提供更完整的转录组与表观基因组信息，第三代测序技术推动了癌症研究的发展。本综述聚焦第三代测序技术及其在癌症研究中日益重要的作用，系统探讨其优势与局限，并对该技术在检测第二代测序难以发现的隐匿基因组异常方面的应用进行严谨科学分析。这项前景广阔的技术在科研与临床领域均具有巨大潜力，对癌症诊断与治疗将产生深远影响。
肿瘤(癌症)患者之家