Studying Cancer Genomics Through Next-Generation DNA Sequencing and Bioinformatics
Studying Cancer Genomics Through Next-Generation DNA Sequencing and Bioinformatics
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DOI：
10.1007/978-1-4939-0847-9_6
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发表时间：
2014-01-01
期刊：
影响因子：
--
通讯作者：
Wong, Stephen Q.
中科院分区：
文献类型：
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作者：
Doyle, Maria A.;Li, Jason;Wong, Stephen Q.
癌症是一种复杂的疾病，由癌细胞一生中获得的多种突变驱动。这些改变被称为体细胞突变以将其与遗传的种系突变区分开，可以包括单核苷酸取代、插入、缺失、拷贝数改变和结构重排。患者的癌症可能包含这些畸变的组合，并且产生全面遗传特征的能力将极大地改善患者的诊断和治疗。下一代测序已成为从单一肿瘤来源发现多种癌症突变的首选工具，这种快速高通量技术的成本下降正在鼓励其从基础研究过渡到临床环境。然而，测序数据中突变的检测仍然是一个不断发展的领域，癌症基因组数据需要一些特殊的考虑。本章讨论了这些方面，并概述了目前用于检测癌症测序数据中体细胞突变的生物信息学方法。
Cancer is a complex disease driven by multiple mutations acquired over the lifetime of the cancer cells. These alterations, termed somatic mutations to distinguish them from inherited germline mutations, can include single-nucleotide substitutions, insertions, deletions, copy number alterations, and structural rearrangements. A patient's cancer can contain a combination of these aberrations, and the ability to generate a comprehensive genetic profile should greatly improve patient diagnosis and treatment. Next-generation sequencing has become the tool of choice to uncover multiple cancer mutations from a single tumor source, and the falling costs of this rapid high-throughput technology are encouraging its transition from basic research into a clinical setting. However, the detection of mutations in sequencing data is still an evolving area and cancer genomic data requires some special considerations. This chapter discusses these aspects and gives an overview of current bioinformatics methods for the detection of somatic mutations in cancer sequencing data.