The use of foundational ontologies in biomedical research.

Journal: Journal of biomedical semantics
Published Date:

Abstract

BACKGROUND: The FAIR principles recommend the use of controlled vocabularies, such as ontologies, to define data and metadata concepts. Ontologies are currently modelled following different approaches, sometimes describing conflicting definitions of the same concepts, which can affect interoperability. To cope with that, prior literature suggests organising ontologies in levels, where domain specific (low-level) ontologies are grounded in domain independent high-level ontologies (i.e., foundational ontologies). In this level-based organisation, foundational ontologies work as translators of intended meaning, thus improving interoperability. Despite their considerable acceptance in biomedical research, there are very few studies testing foundational ontologies. This paper describes a systematic literature mapping that was conducted to understand how foundational ontologies are used in biomedical research and to find empirical evidence supporting their claimed (dis)advantages.

Authors

  • César H Bernabé
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. c.h.bernabe@lumc.nl.
  • Núria Queralt-Rosinach
    Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, 92037 USA.
  • Vítor E Silva Souza
    Federal University of Espírito Santo, Vitória, Brazil.
  • Luiz Olavo Bonino da Silva Santos
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Barend Mons
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Annika Jacobsen
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Marco Roos
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. m.roos@lumc.nl.