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纳米孔测序对人类遗传学的潜在影响。

The potential impact of nanopore sequencing on human genetics.

作者信息

Loose Matthew W

机构信息

School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK.

出版信息

Hum Mol Genet. 2017 Oct 1;26(R2):R202-R207. doi: 10.1093/hmg/ddx287.

Abstract

Nanopore sequencing has been available to researchers for a little over 3 years. Recently, the milestone of sequencing and assembling a human genome on this platform was achieved for the first time. Significant improvements to the platform in yield and accuracy, coupled with higher throughput nanopore sequencers, mean that human genome sequencing at scale is now possible. Here, a brief recent history of the nanopore platform is provided, key papers and innovations are highlighted and some of the challenges for the future are discussed.

摘要

纳米孔测序技术已可供研究人员使用三年多一点的时间。最近,首次在该平台上实现了对人类基因组进行测序和组装的里程碑。该平台在产量和准确性方面的显著改进,再加上更高通量的纳米孔测序仪,意味着大规模的人类基因组测序现在成为可能。在此,本文提供了纳米孔平台的近期简要历史,突出了关键论文和创新成果,并讨论了未来的一些挑战。

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