From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors
From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors
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DOI：
10.1139/o08-003
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发表时间：
2008-04-01
影响因子：
2.9
通讯作者：
Marra, Marco A.
中科院分区：
文献类型：
--
作者：
Morozova, Olena;Marra, Marco A.
长期以来，基因组重排被认为是人类肿瘤的标志，并已用于诊断癌症。用于检测基因组重排的技术已从染色体的微观检查发展为最新的基于微阵列的方法。下一代测序技术的可用性可能提供了一种以无与伦比的分辨率仔细检查整个癌症基因组和转录组的手段。在这里，我们回顾了用于检测基因组重排的方法，并讨论每种方法的范围和局限性。最后，我们讨论了下一代测序技术可能会给该领域提供的潜力。
Genome rearrangements have long been recognized as hallmarks of human tumors and have been used to diagnose cancer. Techniques used to detect genome rearrangements have evolved from microscopic examinations of chromosomes to the more recent microarray-based approaches. The availability of next-generation sequencing technologies may provide a means for scrutinizing entire cancer genomes and transcriptomes at unparalleled resolution. Here we review the methods that have been used to detect genome rearrangements and discuss the scope and limitations of each approach. We end with a discussion of the potential that next-generation sequencing technologies may offer to the field.