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., Antoniotti, M., Mauri, G. (2009). Ontological modeling at a domain interface: Bridging clinical and biomolecular knowledge. KNOWLEDGE ENGINEERING REVIEW, 24(3), 205-224 [10.1017/S0269888909990026].

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

DE PAOLI, FLAVIO MARIA;ANTONIOTTI, MARCO;MAURI, GIANCARLO
2009

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. © 2009 Copyright Cambridge University Press.
Articolo in rivista - Articolo scientifico
Ontology, Systems Biology, Biomedical Informatics
English
205
224
20
Colombo, G., Merico, D., Nagy, Z., DE PAOLI, F., Antoniotti, M., Mauri, G. (2009). Ontological modeling at a domain interface: Bridging clinical and biomolecular knowledge. KNOWLEDGE ENGINEERING REVIEW, 24(3), 205-224 [10.1017/S0269888909990026].
Colombo, G; Merico, D; Nagy, Z; DE PAOLI, F; Antoniotti, M; Mauri, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/8616
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