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.

  • Correspondence
  • Published:

Mutation (variation) databases and registries: a rationale for coordination of efforts

Nature Reviews Genetics volume 12, page 881 (2011)Cite this article

Subjects

Access through your institution
Buy or subscribe

The importance of gene- or locus-specific databases (LSDBs) has recently been extolled in this journal (The case for locus-specific databases. Nature Reviews Genetics 12, 378–379 (2011))1. Here we argue that coordination of international efforts for developing comprehensive mutation databases and patient phenotype registries is essential for optimal genetic health care.

Well-funded international efforts for setting up mutation databases or registries are crucial for several reasons. Many variants that are found during clinical testing worldwide are not submitted to databases, where they could form an important resource for patient care. Many laboratories and clinicians do not have the capacity or incentive to submit data to databases. This is especially the case in developing countries owing mainly to technical insufficiency, lack of public awareness, lack of international communications, the absence of the concept of DNA biobanking, national authority restrictions and lack of translation from original languages to English.

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

References

  1. Samuels, M. E. & Rouleau, G. A. The case for locus-specific databases. Nature Rev. Genet. 12, 378–379 (2011).

    Article  CAS  Google Scholar 

  2. Anonymous. What is the Human Variome Project? Nature Genet. 39, 423 (2007).

  3. Cotton, R. G. et al. Recommendations of the 2006 Human Variome Project meeting. Nature Genet. 39, 433–436 (2007).

    Article  CAS  Google Scholar 

  4. Kohonen-Corish, M. R. J. et al. How to catch all those mutations — the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum. Mutat. 31, 1374–1381 (2010).

    Article  Google Scholar 

  5. Cyranoski, D. China spurs quest for human variome. Nature 469, 455 (2011).

    Article  CAS  Google Scholar 

  6. Byrne, B. J. et al. Pompe disease: design, methodology, and early findings from the Pompe registry. Mol. Genet. Metab. 103, 1–11 (2011).

    Article  CAS  Google Scholar 

  7. Rubinstein, Y. R. et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp. Clin. Trials. 31, 394–404 (2010).

    Article  Google Scholar 

  8. Forrest, C. B. et al. The case for a global rare disease registry. Lancet 377, 1057–1059 (2011).

    Article  Google Scholar 

  9. Abbott, A. Rare-disease project has global ambitions. Nature 472, 17 (2011).

    Article  CAS  Google Scholar 

  10. Cotton, R. G. et al. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet. Med. 11, 843–849 (2009).

    Article  Google Scholar 

Download references

Author information

Author notes

  1. Arleen D. Auerbach, John Burn, Jean-Jacques Cassiman, Mireille Claustres, Richard G. H. Cotton, Garry Cutting, Johan T. den Dunnen, Mona El-Ruby, Aida Falcon Vargas, Marc S. Greenblatt, Finlay Macrae, Yoichi Matsubara, David L. Rimoin, Mauno Vihinen and Christine Van Broeckhoven: The authors are all members of the International Scientific Advisory Committee of the Human Variome Project.

Authors and Affiliations

  1. Arleen D. Auerbach is at The Rockefeller University, New York, New York 10065, USA.,

    Arleen D. Auerbach

  2. John Burn is at the Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK.,

    John Burn

  3. Jean-Jacques Cassiman is at the Center for Human Genetics, Forensic Medicine Campus, Katholieke Universiteit Leuven, Leuven, Belgium.,

    Jean-Jacques Cassiman

  4. Mireille Claustres is at the Institut of Universitaire Clinical Research, University Hospital of Montpellier, Montpellier 34093, France.,

    Mireille Claustres

  5. Richard G. H. Cotton is at the Human Variome Project, University of Melbourne, Melbourne, Australia.,

    Richard G. H. Cotton

  6. Garry Cutting is at the Johns Hopkins School of Medicine, Baltimore, Maryland, USA.,

    Garry Cutting

  7. Johan T. den Dunnen is at Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.,

    Johan T. den Dunnen

  8. Mona El-Ruby is at the National Research Centre, Dokki, Cairo 12311, Egypt.,

    Mona El-Ruby

  9. Aida Falcon Vargas is at the Centro Clínico Profesional Caracas, Anexo Hospital de Clínicas Caracas, San Bernardino, Caracas, Venezuela.,

    Aida Falcon Vargas

  10. Marc Greenblatt is at the University of Vermont, Burlington, Vermont 05405, USA,

    Marc S. Greenblatt

  11. Finlay Macrae is at The Royal Melbourne Hospital, Parkville 3050, Melbourne, Victoria, Australia.,

    Finlay Macrae

  12. Yoichi Matsubara is at Tohoku University School of Medicine, Sendai, Miyagi 980–8574, Japan.,

    Yoichi Matsubara

  13. David Rimoin is at the Cedars–Sinai Medical Center, Los Angeles, California 90048, USA.,

    David L. Rimoin

  14. Mauno Vihinen is at the University of Tampere and BioMediTech, Tampere, Finland,

    Mauno Vihinen

  15. Christine Van Broeckhoven is at the VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerp, Belgium.,

    Christine Van Broeckhoven

Authors
  1. Arleen D. Auerbach
    View author publications

    Search author on:PubMed Google Scholar

  2. John Burn
    View author publications

    Search author on:PubMed Google Scholar

  3. Jean-Jacques Cassiman
    View author publications

    Search author on:PubMed Google Scholar

  4. Mireille Claustres
    View author publications

    Search author on:PubMed Google Scholar

  5. Richard G. H. Cotton
    View author publications

    Search author on:PubMed Google Scholar

  6. Garry Cutting
    View author publications

    Search author on:PubMed Google Scholar

  7. Johan T. den Dunnen
    View author publications

    Search author on:PubMed Google Scholar

  8. Mona El-Ruby
    View author publications

    Search author on:PubMed Google Scholar

  9. Aida Falcon Vargas
    View author publications

    Search author on:PubMed Google Scholar

  10. Marc S. Greenblatt
    View author publications

    Search author on:PubMed Google Scholar

  11. Finlay Macrae
    View author publications

    Search author on:PubMed Google Scholar

  12. Yoichi Matsubara
    View author publications

    Search author on:PubMed Google Scholar

  13. David L. Rimoin
    View author publications

    Search author on:PubMed Google Scholar

  14. Mauno Vihinen
    View author publications

    Search author on:PubMed Google Scholar

  15. Christine Van Broeckhoven
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to Arleen D. Auerbach.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Related links

Related links

FURTHER INFORMATION

The Human Genome Variation Society

The Human Variome Project

Rights and permissions

Reprints and permissions

About this article

Cite this article

Auerbach, A., Burn, J., Cassiman, JJ. et al. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet 12, 881 (2011). https://doi.org/10.1038/nrg3011-c1

Download citation

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/nrg3011-c1

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