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J Am Med Inform Assoc 18:354-357 doi:10.1136/amiajnl-2011-000245
  • Perspective

Translational bioinformatics: linking knowledge across biological and clinical realms

Open Access
  1. Lucila Ohno-Machado12
  1. 1Center for Clinical and Translational Science, University of Vermont, Burlington, Vermont, USA
  2. 2Department of Microbiology and Molecular Genetics, College of Medicine, University of Vermont, Burlington, Vermont, USA
  3. 3Department of Computer Science, College of Engineering and Mathematical Sciences, University of Vermont, Burlington, Vermont, USA
  4. 4Division of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA
  5. 5Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, USA
  6. 6UC Comprehensive Cancer Center, Ludwig Centre for Metastasis Research, University of Chicago, Chicago, Illinois, USA
  7. 7Institute of Genomics and Systems Biology, Institute for Translational Medicine, Computational Institute, University of Chicago, Chicago, Illinois, USA
  8. 8Division of Biomedical and Health Informatics, University of Washington, Seattle, Washington, USA
  9. 9Institute of Translational Health Sciences, University of Washington, Seattle, Washington, USA
  10. 10Institute for Genomic Medicine, University of Washington, Seattle, Washington, USA
  11. 11Department of Computer Science, University of Washington, Seattle, Washington, USA
  12. 12Division of Biomedical Informatics, University of California San Diego, La Jolla, California, USA
  1. Correspondence to Dr Indra Neil Sarkar, Center for Clinical and Translational Science, University of Vermont, 89 Beaumont Avenue, Given Courtyard N309, Burlington, VT 05405, USA; neil.sarkar{at}uvm.edu
  • Received 14 March 2011
  • Accepted 19 April 2011
  • Published Online First 10 May 2011

Abstract

Nearly a decade since the completion of the first draft of the human genome, the biomedical community is positioned to usher in a new era of scientific inquiry that links fundamental biological insights with clinical knowledge. Accordingly, holistic approaches are needed to develop and assess hypotheses that incorporate genotypic, phenotypic, and environmental knowledge. This perspective presents translational bioinformatics as a discipline that builds on the successes of bioinformatics and health informatics for the study of complex diseases. The early successes of translational bioinformatics are indicative of the potential to achieve the promise of the Human Genome Project for gaining deeper insights to the genetic underpinnings of disease and progress toward the development of a new generation of therapies.

Footnotes

  • Funding INS is funded in part by a grant from the National Institutes of Health (R01LM009725). AJB is funded in part by grants from the Lucile Packard Foundation for Children's Health, Hewlett Packard Foundation, and the National Institutes of Health (R01LM009719). YAL is funded in part by a grant from the National Institutes of Health (UL1RR024999). LOM is funded in part by grants from the National Institutes of Health (R01LM009520, U54HL108460, and UL1RR031980), the Komen Foundation, and the Agency for Healthcare Research and Quality (R01HS019913). PTH is funded in part by grants from the Washington Life Sciences Discovery Fund (‘Institute for Genomic Medicine’) and National Institutes of Health (T15LM07442, UL1RR025014, P41LM007242, R01HG02288).

  • Competing interests INS, YAL, PTH, and LOM declare they have no competing interests. AJB COI has been submitted in accordance to the ICMJE COI form.

  • Provenance and peer review Not commissioned; externally peer reviewed.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/2.0/ and http://creativecommons.org/licenses/by-nc/2.0/legalcode.

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