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.

  • Commentary
  • Published:

The NCBI dbGaP database of genotypes and phenotypes

Nature Genetics volume 39, pages 1181–1186 (2007)Cite this article

The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them. dbGaP assigns stable, unique identifiers to studies and subsets of information from those studies, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.

Access through your institution
Buy or subscribe

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

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: Accession numbers in dbGaP are created separately for a study and its subordinate objects — phenotype variables, phenotype trait tables, documents and genotype datasets – prefixed phs, phv, pht, phd and phg, respectively.

References

  1. The GAIN Collaborative Research Group. Nat. Genet. 39, 1045–1051 (2007).

  2. Lowrance, W.W. & Collins, F.S. ETHICS: identifiability in genomic research. Science 317, 600–602 (2007).

    Article  CAS  PubMed  Google Scholar 

  3. Harold, E.R. XML Bible 2nd edn. (Hungry Minds, Indianapolis, Indiana, USA, 2001).

    Google Scholar 

  4. Bray, T., Paoli, J., Sperberg-McQueen, C.M., Maler, E. & Yergeau, F. Extensible Markup Language (XML) 1.0 4th edn. (World Wide Web Consortium (W3C), 2006) <http://www.w3.org/TR/REC-xml/>.

    Google Scholar 

  5. Clayton, D.G. et al. Nat. Genet. 37, 1243–1246 (2005).

    Article  CAS  PubMed  Google Scholar 

  6. Devlin, B. & Roeder, K. Biometrics 55, 997–1004 (1999).

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

Thanks to T. Manolio, J. Coleman, F Collins and C. O'Donnell for useful comments and discussion. This research was supported by the Intramural Research Program of the US National Institutes of Health, National Library of Medicine.

Author information

Authors and Affiliations

  1. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, 20892-6510, Maryland, USA

    Matthew D Mailman, Michael Feolo, Yumi Jin, Masato Kimura, Kimberly Tryka, Rinat Bagoutdinov, Luning Hao, Anne Kiang, Justin Paschall, Lon Phan, Natalia Popova, Stephanie Pretel, Lora Ziyabari, Moira Lee, Yu Shao, Zhen Y Wang, Karl Sirotkin, Minghong Ward, Michael Kholodov, Kerry Zbicz, Jeffrey Beck, Michael Kimelman, Sergey Shevelev, Don Preuss, Eugene Yaschenko, Alan Graeff, James Ostell & Stephen T Sherry

Authors
  1. Matthew D Mailman
    View author publications

    You can also search for this author inPubMed Google Scholar

  2. Michael Feolo
    View author publications

    You can also search for this author inPubMed Google Scholar

  3. Yumi Jin
    View author publications

    You can also search for this author inPubMed Google Scholar

  4. Masato Kimura
    View author publications

    You can also search for this author inPubMed Google Scholar

  5. Kimberly Tryka
    View author publications

    You can also search for this author inPubMed Google Scholar

  6. Rinat Bagoutdinov
    View author publications

    You can also search for this author inPubMed Google Scholar

  7. Luning Hao
    View author publications

    You can also search for this author inPubMed Google Scholar

  8. Anne Kiang
    View author publications

    You can also search for this author inPubMed Google Scholar

  9. Justin Paschall
    View author publications

    You can also search for this author inPubMed Google Scholar

  10. Lon Phan
    View author publications

    You can also search for this author inPubMed Google Scholar

  11. Natalia Popova
    View author publications

    You can also search for this author inPubMed Google Scholar

  12. Stephanie Pretel
    View author publications

    You can also search for this author inPubMed Google Scholar

  13. Lora Ziyabari
    View author publications

    You can also search for this author inPubMed Google Scholar

  14. Moira Lee
    View author publications

    You can also search for this author inPubMed Google Scholar

  15. Yu Shao
    View author publications

    You can also search for this author inPubMed Google Scholar

  16. Zhen Y Wang
    View author publications

    You can also search for this author inPubMed Google Scholar

  17. Karl Sirotkin
    View author publications

    You can also search for this author inPubMed Google Scholar

  18. Minghong Ward
    View author publications

    You can also search for this author inPubMed Google Scholar

  19. Michael Kholodov
    View author publications

    You can also search for this author inPubMed Google Scholar

  20. Kerry Zbicz
    View author publications

    You can also search for this author inPubMed Google Scholar

  21. Jeffrey Beck
    View author publications

    You can also search for this author inPubMed Google Scholar

  22. Michael Kimelman
    View author publications

    You can also search for this author inPubMed Google Scholar

  23. Sergey Shevelev
    View author publications

    You can also search for this author inPubMed Google Scholar

  24. Don Preuss
    View author publications

    You can also search for this author inPubMed Google Scholar

  25. Eugene Yaschenko
    View author publications

    You can also search for this author inPubMed Google Scholar

  26. Alan Graeff
    View author publications

    You can also search for this author inPubMed Google Scholar

  27. James Ostell
    View author publications

    You can also search for this author inPubMed Google Scholar

  28. Stephen T Sherry
    View author publications

    You can also search for this author inPubMed Google Scholar

Corresponding author

Correspondence to Stephen T Sherry.

Supplementary information

Supplementary Text and Figures

Supplementary Figure 1 and Supplementary Note (PDF 140 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mailman, M., Feolo, M., Jin, Y. et al. The NCBI dbGaP database of genotypes and phenotypes. Nat Genet 39, 1181–1186 (2007). https://doi.org/10.1038/ng1007-1181

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng1007-1181

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