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. © 2009 Copyright Cambridge University Press.
Colombo, G., Merico, D., Nagy, Z., De Paoli, F.M., Antoniotti, M., & Mauri, G. (2009). Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge. KNOWLEDGE ENGINEERING REVIEW, 24(3), 205-224.
|Citazione:||Colombo, G., Merico, D., Nagy, Z., De Paoli, F.M., Antoniotti, M., & Mauri, G. (2009). Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge. KNOWLEDGE ENGINEERING REVIEW, 24(3), 205-224.|
|Tipo:||Articolo in rivista - Articolo scientifico|
|Carattere della pubblicazione:||Scientifica|
|Presenza di un coautore afferente ad Istituzioni straniere:||Si|
|Titolo:||Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge|
|Autori:||Colombo, G; Merico, D; Nagy, Z; De Paoli, FM; Antoniotti, M; Mauri, G|
|Data di pubblicazione:||2009|
|Rivista:||KNOWLEDGE ENGINEERING REVIEW|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1017/S0269888909990026|
|Appare nelle tipologie:||01 - Articolo su rivista|