In:
The Knowledge Engineering Review, Cambridge University Press (CUP), Vol. 24, No. 3 ( 2009-09), p. 205-224
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.
Type of Medium:
Online Resource
ISSN:
0269-8889
,
1469-8005
DOI:
10.1017/S0269888909990026
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2009
detail.hit.zdb_id:
57960-9
detail.hit.zdb_id:
1466682-0
SSG:
24,1
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