Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, 5-1-5 Kashiwanoha, Kashiwa, Chiba, 277-8561, Japan.
J Hum Genet. 2020 Jan;65(1):3-10. doi: 10.1038/s10038-019-0658-5. Epub 2019 Sep 2.
Cancer is a disease largely caused by genomic aberrations. Utilizing many rapidly emerging sequencing technologies, researchers have studied cancer genomes to understand the molecular statuses of cancer cells and to reveal their vulnerabilities, such as driver mutations or gene expression. Long-read technologies enable us to identify and characterize novel types of cancerous mutations, including complicated structural variants in haplotype resolution. In this review, we introduce three representative platforms for long-read sequencing and research trends of cancer genomics with long-read data. Further, we describe that aberrant transcriptome and epigenome statuses, namely, fusion transcripts, as well as aberrant transcript isoforms and the phase information of DNA methylation, are able to be elucidated by long-read sequencers. Long-read sequencing may shed light on novel types of aberrations in cancer genomics that are being missed by conventional short-read sequencing analyses.
癌症主要是由基因组异常引起的疾病。利用许多新兴的测序技术，研究人员已经研究了癌症基因组，以了解癌细胞的分子状态，并揭示其脆弱性，如驱动突变或基因表达。长读长技术使我们能够识别和表征新型的癌症突变，包括在单倍型分辨率下的复杂结构变异。在这篇综述中，我们介绍了三种代表性的长读长测序平台和长读长数据的癌症基因组学研究趋势。此外，我们还描述了异常的转录组和表观基因组状态，即融合转录本，以及异常的转录本异构体和 DNA 甲基化的相位信息，都可以通过长读长测序仪来阐明。长读长测序可能会揭示出传统短读长测序分析中遗漏的癌症基因组学中的新型异常。
