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Abstract：
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.
摘要：
癌症是由许多基因组畸变引起的多方面疾病,所述基因组畸变已被鉴定为测序技术进步的结果。而下一代测序(NGS)，它使用短读，改变了癌症研究和诊断，它受读取长度的限制。第三代测序（TGS），由太平洋生物科学和牛津纳米孔技术平台领导，采用长读序列，这标志着癌症研究的范式转变。癌症基因组通常包含复杂的事件，和TGS,具有跨越大型基因组区域的能力，促进了他们的表征，提供了一个更好的理解复杂的重排如何影响癌症的开始和进展。TGS还表征了各种癌症的整个转录组，揭示可作为生物标志物或治疗靶标的癌症相关亚型。此外，TGS通过改进基因组组装来推进癌症研究，检测复杂变异，并提供更完整的转录组和表观基因组。本文综述了TGS及其在癌症研究中日益增长的作用。我们研究了它的优点和局限性，提供严格的科学分析，用于检测NGS错过的先前隐藏的像差。这项有前途的技术在研究和临床应用方面都具有巨大的潜力，对癌症的诊断和治疗具有深远的意义。
