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Translational bioinformatics: linking knowledge across biological and clinical realms

Indra Neil Sarkar , Atul J Butte , Yves A Lussier , Peter Tarczy-Hornoch , Lucila Ohno-Machado
DOI: http://dx.doi.org/10.1136/amiajnl-2011-000245 354-357 First published online: 1 July 2011


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.

  • Translational bioinformatics
  • systems medicine
  • systems biology
  • bioinformatics
  • biomedical informatics
  • knowledge representation
  • information retrieval
  • phylogenetics
  • modeling physiologic and disease processes
  • linking the genotype and phenotype
  • identifying genome and protein structure and function
  • visualization of data and knowledge
  • simulation of complex systems (at all levels: molecules to work groups to organizations)
  • knowledge representations
  • uncertain reasoning and decision theory
  • languages
  • computational methods
  • statistical analysis of large datasets
  • advanced algorithms
  • discovery
  • text and data mining methods
  • natural-language processing
  • automated learning
  • ontologies

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