Reference ontology design for a neurovascular knowledge network

In this paper we describe the ontological model developed within the NEUROWEB project, a consortium of four European excellence centers for the diagnosis and treatment of the Ischemic Stroke pathology. The aim of the project is the development of a support system for association studies, intended as the search for statistical correlations between a feature (e.g., a genotype) and the clinical phenotype. Clinical phenotypes are assessed through the diagnostic activity, performed by clinical experts operating within different neurovascular sites. These sites 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 developed a central model for the clinical phenotypes (the NEUROWEB Reference Ontology), able to reconcile the different methodologies into a common classificatory system. To support the integrative analysis of genotype-phenotype relations, the Reference Ontology was extended to handle concepts of the genomic world. We identified the general theory of biological function as the common ground between the clinical medicine and molecular biosciences; therefore we decomposed the clinical phenotypes into elementary phenotypes with a homogeneous physiological background, and we connected them to the biological processes, acting as the elementary units of the genomic world.