Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Cancer Lett. 2013 Nov 1;340(2):161-70. doi: 10.1016/j.canlet.2012.11.004. Epub 2012 Nov 23.
Genomic sequencing has provided critical insights into the etiology of both simple and complex diseases. The enormous reductions in cost for whole genome sequencing have allowed this technology to gain increasing use. Whole genome analysis has impacted research of complex diseases including cancer by allowing the systematic analysis of entire genomes in a single experiment, thereby facilitating the discovery of somatic and germline mutations, and identification of the insertions, deletions, and structural rearrangements, including translocations and inversions, in novel disease genes. Whole-genome sequencing can be used to provide the most comprehensive characterization of the cancer genome, the complexity of which we are only beginning to understand. Hence in this review, we focus on whole-genome sequencing in cancer.
基因组测序为简单和复杂疾病的病因提供了重要的见解。全基因组测序成本的大幅降低使得这项技术得到了越来越多的应用。全基因组分析通过允许在单个实验中系统地分析整个基因组,从而促进了体细胞和种系突变的发现,以及新型疾病基因中的插入、缺失和结构重排(包括易位和倒位)的鉴定,影响了复杂疾病的研究,包括癌症。全基因组测序可用于提供对癌症基因组的最全面描述,而我们才刚刚开始理解癌症基因组的复杂性。因此,在这篇综述中,我们专注于癌症中的全基因组测序。