Title
Ontological modeling at a domain interface: Bridging clinical and biomolecular knowledge
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.
Year
DOI
Venue
2009
10.1017/S0269888909990026
Knowledge Eng. Review
Keywords
Field
DocType
domain interface,biological process,biological function,elementary phenotypes,common standard,clinical expert,ontological modeling,clinical phenotypes,biomolecular knowledge,neurovascular medicine,common classificatory system,common ground,neuroweb project
Ontology,Homogeneous,Computer science,Support system,Bridging (networking),Knowledge management,Systems biology,Genomics,Common ground,Health informatics
Journal
Volume
Issue
ISSN
24
3
0269-8889
Citations 
PageRank 
References 
0
0.34
23
Authors
6
Name
Order
Citations
PageRank
Gianluca Colombo1454.09
Daniele Merico2133.19
Zolt&#225/n Nagy300.34
flavio de paoli442648.24
Marco Antoniotti510218.50
Giancarlo Mauri62106297.38