Review Article | Published:

DNA sequencing at 40: past, present and future

Nature volume 550, pages 345353 (19 October 2017) | Download Citation

Abstract

This review commemorates the 40th anniversary of DNA sequencing, a period in which we have already witnessed multiple technological revolutions and a growth in scale from a few kilobases to the first human genome, and now to millions of human and a myriad of other genomes. DNA sequencing has been extensively and creatively repurposed, including as a ‘counter’ for a vast range of molecular phenomena. We predict that in the long view of history, the impact of DNA sequencing will be on a par with that of the microscope.

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Acknowledgements

This is a large topic to cover in a single review. We apologize to colleagues whose work we were unable to discuss or failed to cite owing to space constraints. We thank L. Starita, C. Trapnell and A. McKenna for suggestions, and T. Tolpa and M. Gillies for extensive assistance with preparing the manuscript.

Author information

Affiliations

  1. Department of Genome Sciences, University of Washington, Seattle, Washington, USA

    • Jay Shendure
    •  & Robert H. Waterston
  2. Howard Hughes Medical Institute, Seattle, Washington, USA

    • Jay Shendure
  3. Department of Chemistry, University of Cambridge, Cambridge, UK

    • Shankar Balasubramanian
  4. Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK

    • Shankar Balasubramanian
  5. The Wyss Institute & Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA

    • George M. Church
  6. Department of Molecular and Cellular Biology, Harvard University, Cambridge Massachusetts, USA.

    • Walter Gilbert
  7. International Wheat Genome Sequencing Consortium, Little Eversden, Cambridge, UK.

    • Jane Rogers
  8. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

    • Jeffery A. Schloss

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Contributions

All authors contributed to the writing of this review.

Competing interests

J.S. is a compensated advisor of Bellwether Bio, Nanostring, Cambridge Epigenetix, Phase Genomics, GenePeeks, Adaptive Biotechnologies, Stratos Genomics. S.B. is a founder, advisor and shareholder of Cambridge Epigenetix Ltd. G.M.C. declares competing interests, see http://arep.med.harvard.edu/gmc/tech.html; W.G. is a director of Myriad Genetics and Amylyx. The other authors (J.R., J.A.S. and R.H.W.) declare no competing interests.

Corresponding author

Correspondence to Jay Shendure.

Reviewer Information Nature thanks M. Gerstein, S. L. Salzberg and the other anonymous reviewer(s) for their contribution to the peer review of this work.

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