Thanks to visit codestin.com
Credit goes to www.nature.com

Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Feature
  • Published:

A vision for the future of genomics research

Nature volume 422, pages 835–847 (2003)Cite this article

A blueprint for the genomic era.

Access through your institution
Buy or subscribe

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Timeline
Figure 2

Notes

  1. *Endorsed by the National Advisory Council for Human Genome Research, whose members are Vickie Yates Brown, David R. Burgess, Wylie Burke, Ronald W. Davis, William M. Gelbart, Eric T. Juengst, Bronya J. Keats, Raju Kucherlapati, Richard P. Lifton, Kim J. Nickerson, Maynard V. Olson, Janet D. Rowley, Robert Tepper, Robert H. Waterston and Tadataka Yamada.

References

  1. Mendel, G. Versuche über Pflanzen-Hybriden. Verhandlungen des naturforschenden Vereines, Abhandlungen, Brünn 4, 3–47 (1866).

    Google Scholar 

  2. Avery, O. T., MacLeod, C. M. & McCarty, M. Studies of the chemical nature of the substance inducing transformation of pneumococcal types. Induction of transformation by a desoxyribonucleic acid fraction isolated from Pneumococcus Type III. J. Exp. Med. 79, 137–158 (1944).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Watson, J. D. & Crick, F. H. C. Molecular structure of nucleic acids: A structure for deoxyribose nucleic acid. Nature 171, 737 (1953).

    Article  ADS  CAS  PubMed  Google Scholar 

  4. Nirenberg, M. W. The genetic code: II. Sci. Am. 208, 80–94 (1963).

    Article  CAS  PubMed  Google Scholar 

  5. Jackson, D. A., Symons, R. H. & Berg, P. Biochemical method for inserting new genetic information into DNA of Simian Virus 40: circular SV40 DNA molecules containing lambda phage genes and the galactose operon of Escherichia coli. Proc. Natl Acad. Sci. USA 69, 2904–2909 (1972).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  6. Cohen, S. N., Chang, A. C., Boyer, H. W. & Helling, R. B. Construction of biologically functional bacterial plasmids in vitro. Proc. Natl Acad. Sci. USA 70, 3240–3244 (1973).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  7. The International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).

  8. Sanger, F. & Coulson, A. R. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J. Mol. Biol. 94, 441–448 (1975).

    Article  CAS  PubMed  Google Scholar 

  9. Maxam, A. M. & Gilbert, W. A new method for sequencing DNA. Proc. Natl Acad. Sci. USA 74, 560–564 (1977).

    Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

  10. Smith, L. M. et al. Fluorescence detection in automated DNA-sequence analysis. Nature 321, 674–679 (1986).

    Article  ADS  CAS  PubMed  Google Scholar 

  11. The Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520–562 (2002).

  12. The Chipping Forecast II. Nature Genet. 32, 461–552 (2002).

  13. Guttmacher, A. E. & Collins, F. S. Genomic medicine — A primer. N. Engl. J. Med. 347, 1512–1520 (2002).

    Article  CAS  PubMed  Google Scholar 

  14. National Research Council. Mapping and Sequencing the Human Genome (National Academy Press, Washington DC, 1988).

  15. US Department of Health and Human Services, US DOE. Understanding Our Genetic Inheritance. The US Human Genome Project: The First Five Years. NIH Publication No. 90-1590 (National Institutes of Health, Bethesda, MD, 1990).

  16. Collins, F. & Galas, D. A new five-year plan for the US Human Genome Project. Science 262, 43–46 (1993).

    Article  ADS  CAS  PubMed  Google Scholar 

  17. Collins, F. S. et al. New goals for the US Human Genome Project: 1998–2003. Science 282, 682–689 (1998).

    Article  ADS  CAS  PubMed  Google Scholar 

  18. Hilbert, D. Mathematical problems. Bull. Am. Math. Soc. 8, 437–479 (1902).

    Article  MathSciNet  Google Scholar 

  19. Aparicio, S. et al. Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science 297, 1301–1310 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  20. Sidow, A. Sequence first. Ask questions later. Cell 111, 13–16 (2002).

    Article  CAS  PubMed  Google Scholar 

  21. Zhang, M. Q. Computational prediction of eukaryotic protein-coding genes. Nature Rev. Genet. 3, 698–709 (2002).

    Article  CAS  PubMed  Google Scholar 

  22. Banerjee, N. & Zhang, M. X. Functional genomics as applied to mapping transcription regulatory networks. Curr. Opin. Microbiol. 5, 313–317 (2002).

    Article  CAS  PubMed  Google Scholar 

  23. Van der Weyden, L., Adams, D. J. & Bradley, A. Tools for targeted manipulation of the mouse genome. Physiol. Genomics 11, 133–164 (2002).

    Article  CAS  PubMed  Google Scholar 

  24. Hannon, G. J. RNA interference. Nature 418, 244–251 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  25. Stockwell, B. R. Chemical genetics: Ligand-based discovery of gene function. Nature Rev. Genet. 1, 116–125 (2000).

    Article  CAS  PubMed  Google Scholar 

  26. Gavin, A. C. et al. Functional organization of the yeast proteome by systematic analysis of protein complexes. Nature 415, 141–147 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  27. Tyson, J. J., Chen, K. & Novak, B. Network dynamics and cell physiology. Nature Rev. Mol. Cell Biol. 2, 908–916 (2001).

    Article  CAS  Google Scholar 

  28. Sachidanandam, R. et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928–933 (2001).

    Article  ADS  CAS  PubMed  Google Scholar 

  29. Gabriel, S. B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225–2229 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  30. Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502–510 (2001).

    Article  CAS  PubMed  Google Scholar 

  31. Hirschhorn, J. N., Lohmueller, K., Byrne, E. & Hirschhorn, K. A comprehensive review of genetic association studies. Genet. Med. 4, 45–61 (2002).

    Article  CAS  PubMed  Google Scholar 

  32. Wagner, K. R. Genetic diseases of muscle. Neurol. Clin. 20, 645–678 (2002).

    Article  PubMed  Google Scholar 

  33. Golub, T. R. Genomic approaches to the pathogenesis of hematologic malignancy. Curr. Opin. Hematol. 8, 252–261 (2001).

    Article  CAS  PubMed  Google Scholar 

  34. Drews, J. & Ryser, S. The role of innovation in drug development. Nature Biotechnol. 15, 1318–1319 (1997).

    Article  CAS  Google Scholar 

  35. Druker, B. J. Imatinib alone and in combination for chronic myeloid leukemia. Semin. Hematol. 40, 50–8 (2003).

    Article  CAS  PubMed  Google Scholar 

  36. Selkoe, D. J. Alzheimer's disease: genes, proteins, and therapy. Physiol. Rev. 81, 741–66 (2001).

    Article  CAS  PubMed  Google Scholar 

  37. Lynch, H. T. & de la Chapelle, A. Genomic medicine: hereditary colorectal cancer. N. Engl. J. Med. 348, 919–932 (2003).

    Article  CAS  PubMed  Google Scholar 

  38. Gardner, M. J. et al. Genome sequence of the human malaria parasite Plasmodium falciparum. Nature 419, 498–511 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  39. Holt, R. A. et al. The genome sequence of the malaria mosquito Anopheles gambiae. Science 298, 129–149 (2002).

    Article  ADS  CAS  PubMed  Google Scholar 

  40. Anderlik, M. R. & Rothstein, M. A. Privacy and confidentiality of genetic information: What rules for the new science? Annu. Rev. Genom. Hum. Genet. 2, 401–433 (2001).

    Article  CAS  Google Scholar 

  41. Hudson, K. L., Rothenberg, K. H., Andrews, L. B., Kahn, M. J. E. & Collins, F. S. Genetic discrimination and health-insurance — An urgent need for reform. Science 270, 391–393 (1995).

    Article  ADS  CAS  PubMed  Google Scholar 

  42. Rothenberg, K. et al. Genetic information and the workplace: Legislative approaches and policy challenges. Science 275, 1755–1757 (1997).

    Article  CAS  PubMed  Google Scholar 

  43. Fuller, B. P. et al. Policy forum: Ethics — privacy in genetics research. Science 285, 1359–1361 (1999).

    Article  CAS  PubMed  Google Scholar 

  44. Miller, P. S. Is there a pink slip in my genes? J. Health Care Law Policy 3, 225–265 (2000).

    CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The formulation of this vision could not have happened without the thoughtful and dedicated contributions of a large number of people. The authors were greatly assisted by Kathy Hudson, Elke Jordan, Susan Vasquez, Kris Wetterstrand, Darryl Leja and Robert Nussbaum. A subcommittee of the National Advisory Council for Human Genome Research, including Wylie Burke, William Gelbart, Eric Juengst, Maynard Olson, Robert Tepper and David Valle, provided a critical sounding board for draft versions of this document. We also thank Aravinda Chakravarti, Ellen Wright Clayton, Raynard Kington, Eric Lander, Richard Lifton and Sharon Terry for serving as working-group chairs at the meeting in November 2002 that refined this document. Finally, we thank the hundreds of individuals who participated as workshop planners and/or participants during this 18-month process.

Author information

Authors and Affiliations

  1. National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA

    Francis S. Collins, Eric D. Green, Alan E. Guttmacher & Mark S. Guyer

Authors
  1. Francis S. Collins
    View author publications

    Search author on:PubMed Google Scholar

  2. Eric D. Green
    View author publications

    Search author on:PubMed Google Scholar

  3. Alan E. Guttmacher
    View author publications

    Search author on:PubMed Google Scholar

  4. Mark S. Guyer
    View author publications

    Search author on:PubMed Google Scholar

Consortia

on behalf of the US National Human Genome Research Institute

Rights and permissions

Reprints and permissions

About this article

Cite this article

Collins, F., Green, E., Guttmacher, A. et al. A vision for the future of genomics research. Nature 422, 835–847 (2003). https://doi.org/10.1038/nature01626

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/nature01626

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing