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The expanding scope of DNA sequencing

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Abstract

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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Figure 1: Where we are headed: a road map of sequencing science.
Figure 2: Structure of sequencing experiments.
Figure 3: How we are getting there: a subway map of sequencing technology.

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Acknowledgements

We thank L. Solomon and L. Gaffney of the Broad Institute for assistance with the design and preparation of figures; B. Wong and S. Arbesman for input on figure design; A.P. Aiden for valuable comments; and members of the Shendure lab and of the Laboratory at Large for discussions.

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Correspondence to Jay Shendure or Erez Lieberman Aiden.

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Shendure, J., Aiden, E. The expanding scope of DNA sequencing. Nat Biotechnol 30, 1084–1094 (2012). https://doi.org/10.1038/nbt.2421

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