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下一代测序对基因组学的影响。

The impact of next-generation sequencing on genomics.

机构信息

COE for Neurosciences, Department of Anesthesiology, Texas Tech University Health Sciences Center El Paso, TX 79905, USA.

出版信息

J Genet Genomics. 2011 Mar 20;38(3):95-109. doi: 10.1016/j.jgg.2011.02.003. Epub 2011 Mar 15.

Abstract

This article reviews basic concepts, general applications, and the potential impact of next-generation sequencing (NGS) technologies on genomics, with particular reference to currently available and possible future platforms and bioinformatics. NGS technologies have demonstrated the capacity to sequence DNA at unprecedented speed, thereby enabling previously unimaginable scientific achievements and novel biological applications. But, the massive data produced by NGS also presents a significant challenge for data storage, analyses, and management solutions. Advanced bioinformatic tools are essential for the successful application of NGS technology. As evidenced throughout this review, NGS technologies will have a striking impact on genomic research and the entire biological field. With its ability to tackle the unsolved challenges unconquered by previous genomic technologies, NGS is likely to unravel the complexity of the human genome in terms of genetic variations, some of which may be confined to susceptible loci for some common human conditions. The impact of NGS technologies on genomics will be far reaching and likely change the field for years to come.

摘要

本文综述了下一代测序(NGS)技术的基本概念、一般应用以及对基因组学的潜在影响,特别提到了当前可用的和未来可能的平台和生物信息学。NGS 技术已经展示了以空前的速度对 DNA 进行测序的能力,从而实现了以前难以想象的科学成就和新的生物学应用。但是,NGS 产生的大量数据也对数据存储、分析和管理解决方案提出了重大挑战。先进的生物信息学工具是成功应用 NGS 技术的关键。正如本文综述中所证明的,NGS 技术将对基因组学研究和整个生物学领域产生巨大影响。NGS 能够解决以前基因组技术无法解决的难题,可能会揭示人类基因组在遗传变异方面的复杂性,其中一些遗传变异可能局限于某些常见人类疾病的易感部位。NGS 技术对基因组学的影响将是深远的,并可能在未来几年改变该领域。

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