Next-generation sequencing technologies: breaking the sound barrier of human genetics.
Next-generation sequencing technologies: breaking the sound barrier of human genetics.
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DOI：
10.1093/mutage/geu031
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发表时间：
2014-09
期刊：
影响因子：
2.7
通讯作者：
Stambrook PJ
中科院分区：
文献类型：
--
作者：
Bahassi el M;Stambrook PJ
对能够提供快速、廉价且准确的基因组信息的新技术的需求从未如此之大。这一挑战促进了下一代测序（NGS）技术的快速发展。与以前更标准的方法相比，大量序列数据的生成和数据采集的速度是主要优势。 2013年，美国食品和药物管理局授予了第一台高通量NG测序仪Illumina的MiSeqDx的上市许可，该测序仪允许开发和使用大量新的基于基因组的测试。在这里，我们回顾了模板制备、核酸测序和成像、基因组组装和比对方法以及当前和近期商用 NGS 仪器的最新进展。我们还概述了 NGS 技术的广泛应用，并提供平台选择指南，以最好地解决感兴趣的生物学问题。 DNA 测序彻底改变了生物学和医学研究，并且有望对医学实践产生类似的影响。该工具只是不断增加的开发工具之一，这些工具增强了我们识别、量化和功能表征生物网络组成部分的能力，这些组成部分使我们保持健康或使我们生病。尽管其他“组学”技术取得了进步，但 DNA 测序和分析在许多方面迄今为止仍发挥着主导作用。新技术在人类和模式生物的基因型和表型之间架起了一座桥梁，并彻底改变了评估复杂人类疾病风险的方式。大型 DNA 序列数据集的生成正在产生大量有关大量个人和人群的医学相关信息，这些信息有可能成为未来真正个性化医疗的基础。
Demand for new technologies that deliver fast, inexpensive and accurate genome information has never been greater. This challenge has catalysed the rapid development of advances in next-generation sequencing (NGS). The generation of large volumes of sequence data and the speed of data acquisition are the primary advantages over previous, more standard methods. In 2013, the Food and Drug Administration granted marketing authorisation for the first high-throughput NG sequencer, Illumina’s MiSeqDx, which allowed the development and use of a large number of new genome-based tests. Here, we present a review of template preparation, nucleic acid sequencing and imaging, genome assembly and alignment approaches as well as recent advances in current and near-term commercially available NGS instruments. We also outline the broad range of applications for NGS technologies and provide guidelines for platform selection to best address biological questions of interest. DNA sequencing has revolutionised biological and medical research, and is poised to have a similar impact on the practice of medicine. This tool is but one of an increasing arsenal of developing tools that enhance our capabilities to identify, quantify and functionally characterise the components of biological networks that keep us healthy or make us sick. Despite advances in other ‘omic’ technologies, DNA sequencing and analysis, in many respects, have played the leading role to date. The new technologies provide a bridge between genotype and phenotype, both in man and model organisms, and have revolutionised how risk of developing a complex human disease may be assessed. The generation of large DNA sequence data sets is producing a wealth of medically relevant information on a large number of individuals and populations that will potentially form the basis of truly individualised medical care in the future.