Ontological modeling at a domain interface: Bridging clinical and biomolecular knowledge

  • Authors:
  • Gianluca Colombo;Daniele Merico;Zoltá/n Nagy;Flavio De paoli;Marco Antoniotti;Giancarlo Mauri

  • Affiliations:
  • Department of computer science, systems and communication (disco), university of milan—/bicocca, viale sarca, 336/14, 20126 milan, italy/ e-mail: gianluca.colombo@disco.unimib.it;Department of computer science, systems and communication (disco), university of milan—/bicocca, viale sarca, 336/14, 20126 milan, italy/ e-mail: gianluca.colombo@disco.unimib.it;Department of vascular neurology, semmelweis university, huvosvolgyi street 116, 1021 budapest, hungary/ e-mail: nagy@opni.hu;Department of computer science, systems and communication (disco), university of milan—/bicocca, viale sarca, 336/14, 20126 milan, italy/ e-mail: flavio.depaoli@disco.unimib.it;Department of computer science, systems and communication (disco), university of milan—/bicocca, viale sarca, 336/14, 20126 milan, italy/ e-mail: marco.antioniotti@disco.unimib.it;Department of computer science, systems and communication (disco), university of milan—/bicocca, viale sarca, 336/14, 20126 milan, italy/ e-mail: mauri@disco.unimib.it

  • Venue:
  • The Knowledge Engineering Review
  • Year:
  • 2009

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Abstract

In this paper, we discuss the challenges posed by the NEUROWEB project, as a case study of ontological modeling at a knowledge interface between neurovascular medicine and genomics. The aim of the project is the development of a support system for association studies. We identify the notion of clinical phenotypes, that is, the pathological condition of a patient, as the central construct of the knowledge model. Clinical phenotypes are assessed through the diagnostic activity, performed by clinical experts operating within communities of practice; the different communities operate according to specific procedures, but they also conform to the minimal requirements of international guidelines, displayed by the adoption of a common standard for the patient classification. We develop a central model for the clinical phenotypes, able to reconcile the different methodologies into a common classificatory system. To bridge neurovascular medicine and genomics, we identify the general theory of biological function as the common ground between the two disciplines; therefore, we decompose the clinical phenotypes into elementary phenotypes with a homogeneous physiological background, and we connect them to the biological processes, acting as the elementary units of the genomic world.