Sheng Jie, Wang Yuxin, Qi Jiangfa, Du Qing, Xu Yao
Institute of Biology and Medicine, College of Life Science and Health, Wuhan University of Science and Technology, Wuhan 430081, Hubei, China.
Sheng Wu Gong Cheng Xue Bao. 2020 Feb 25;36(2):180-188. doi: 10.13345/j.cjb.190208.
Tumor development is usually related to the genetic mutation and abnormal expression of multiple genes. Comprehensive analysis of tumor genome, transcriptome and epigenetics is very important for the rapid identification of disease-specific gene clusters and modification sites. Previously, the next-generation sequencing technology was mainly used to explore the information of genomes, however, it cannot meet the requirement of mechanical researches due to several problems such as difficult sequence assembly and leak detection of the low abundance factors. Therefore, single molecule sequencing technology gradually emerged with its unique superiority. This paper reviews the research processes of single molecule sequencing technology in several human tumors, and prospecs its application in clinical diagnosis.
肿瘤的发生发展通常与多个基因的基因突变和异常表达有关。对肿瘤基因组、转录组和表观遗传学进行综合分析，对于快速识别疾病特异性基因簇和修饰位点非常重要。此前，新一代测序技术主要用于探索基因组信息，然而，由于序列组装困难和低丰度因子漏检等问题，它无法满足深入研究的需求。因此，单分子测序技术凭借其独特优势逐渐兴起。本文综述了单分子测序技术在几种人类肿瘤中的研究进展，并展望了其在临床诊断中的应用。
