DNA sequencing: clinical applications of new DNA sequencing technologies.
DNA sequencing: clinical applications of new DNA sequencing technologies.
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DOI：
10.1161/circulationaha.110.972828
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发表时间：
2012-02-21
期刊：
影响因子：
37.8
通讯作者：
Ashley EA
中科院分区：
文献类型：
--
作者：
Dewey FE;Pan S;Wheeler MT;Quake SR;Ashley EA
我们正处在一个遗传学发生巨大变化的时代，这可能会对人类生物学和医学产生巨大影响。人类基因组计划的完成1,2、低成本、高通量平行测序技术的发展以及对遗传变异的大规模研究3为研究遗传病的风险、治疗反应、种群多样性和人类进化提供了丰富的技术和数据。新开发的测序仪器现在每次运行产生数亿到数十亿个短序列，允许快速完成人类基因组测序。这些技术进步促进了DNA测序每碱基对成本的急剧下降（图1）。为了充分利用这些技术在研究和临床应用中的潜力，转化科学家和临床医生必须熟悉一个不断发展的领域。在这篇综述中，我们将回顾人类基因组测序的历史，总结当前和未来的测序技术，重点介绍与数据管理和解释相关的问题，最后考虑高通量测序的研究和临床应用，特别强调心血管疾病。
We are in a time of great change in genetics that may dramatically impact human biology and medicine. The completion of the human genome project, 1, 2 the development of low-cost, high-throughput parallel sequencing technology, and large-scale studies of genetic variation3 have provided a rich set of techniques and data for the study of genetic disease risk, treatment response, population diversity, and human evolution. Newly developed sequencing instruments now generate hundreds of millions to billions of short sequences per run, allowing for rapid complete sequencing of human genomes. These technological advances have facilitated a precipitous drop (Figure 1) in the cost per base pair of DNA sequenced. To capitalize on the potential of these technologies for research and clinical applications, translational scientists and clinicians must become familiar with a continuously evolving field. In this review, we will provide a historical perspective on human genome sequencing, summarize current and future sequencing technologies, highlight issues related to data management and interpretation, and finally consider research and clinical applications of highthroughput sequencing, with specific emphasis on cardiovascular disease.