摘要
DNA测序是破译人类疾病的一种强大技术,尤其在癌症方面。飞速发展的下一代测序(next-generation sequencing,NGS)极大降低了测序成本,并且实现了高通量,这使我们可以获得整个基因组的序列,以及那些临床上确诊病人的全部基因组信息。然而下一代测序技术带来诸多益处的同时也带来了挑战,那就是怎样使这个技术在临床诊断中成为常规手段。本文就目前NGS的几大技术平台原理,在临床诊断中的应用,以及目前面临的挑战等进行综述。
DNA sequencing is a powerful approach for decoding human diseases, including cancers. The rapid development of next-generation sequencing （NGS） greatly reduce the cost of sequencing and realize the high-throughput, which allows us to obtain the whole genome sequence, and entire genome information about those patients who are clinically diagnosed. However, the benefits offered by NGS technologies come with a number of challenges, which is how to make this technology become a conventional means in the clinical diagnosis. This article reviews the principle of a few technology platform, potential applications and the challenges of NGS in the clinical diagnosis.
出处
《分子诊断与治疗杂志》
2013年第3期145-151,共7页
Journal of Molecular Diagnostics and Therapy
基金
国家自然科学基金(30960176)
教育部春晖计划(Z2008-1-75012)
宁夏自然科学基金(NZ1245)
关键词
下一代测序
基因组学
分子诊断
Next-generation sequencing
Genomics
Molecular diagnostics
