The expanding scope of DNA sequencing.

The expanding scope of DNA sequencing.
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DOI:
10.1038/nbt.2421
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发表时间:
2012-11
影响因子:
46.9
通讯作者:
--
中科院分区:
工程技术1区
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--
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在短短七年的时间里,下一代技术已经降低了成本,并将DNA测序的速度提高了四个数量级,需要数百万次测序读取的实验现在已经成为常规。在研究中,测序不仅用于组装基因组和研究人类疾病的遗传基础,而且还用于探索器官和细胞生物学中的无数现象。在临床上,序列数据的效用正在不同的背景下进行深入评估,包括生殖医学,肿瘤学和传染病。在新测序应用的开发中反复出现的主题是现有实验构件的创造性"重组"。然而,下一代DNA测序仍有许多潜在的高影响力应用尚未完全实现。
In just seven years, next-generation technologies have reduced the cost and increased the speed of DNA sequencing by four orders of magnitude, and experiments requiring many millions of sequencing reads are now routine. In research, sequencing is being applied not only to assemble genomes and to investigate the genetic basis of human disease, but also to explore myriad phenomena in organismic and cellular biology. In the clinic, the utility of sequence data is being intensively evaluated in diverse contexts, including reproductive medicine, oncology and infectious disease. A recurrent theme in the development of new sequencing applications is the creative ‘recombination’ of existing experimental building blocks. However, there remain many potentially high-impact applications of next-generation DNA sequencing that are not yet fully realized.
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