Translational bioinformatics: linking knowledge across biological and clinical realms

J Am Med Inform Assoc. Jul-Aug 2011;18(4):354-7. doi: 10.1136/amiajnl-2011-000245. Epub 2011 May 10.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Computational Biology*
  • Human Genome Project
  • Humans
  • Interprofessional Relations*
  • Medical Informatics*
  • Translational Medical Research*