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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.<\/jats:p>","DOI":"10.1017\/s0269888909990026","type":"journal-article","created":{"date-parts":[[2009,9,18]],"date-time":"2009-09-18T11:09:41Z","timestamp":1253272181000},"page":"205-224","source":"Crossref","is-referenced-by-count":1,"title":["Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge"],"prefix":"10.48130","volume":"24","author":[{"given":"Gianluca","family":"Colombo","sequence":"first","affiliation":[]},{"given":"Daniele","family":"Merico","sequence":"additional","affiliation":[]},{"given":"Zolt\u00e1n","family":"Nagy","sequence":"additional","affiliation":[]},{"given":"Flavio","family":"De Paoli","sequence":"additional","affiliation":[]},{"given":"Marco","family":"Antoniotti","sequence":"additional","affiliation":[]},{"given":"Giancarlo","family":"Mauri","sequence":"additional","affiliation":[]}],"member":"27968","published-online":{"date-parts":[[2009,9,1]]},"reference":[{"key":"S0269888909990026_ref18","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.32.5.1091"},{"key":"S0269888909990026_ref46","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-023X(97)00056-6"},{"volume-title":"Working Knowledge: How Organizations Manage What They Know","year":"1998","author":"Davenport","key":"S0269888909990026_ref16"},{"key":"S0269888909990026_ref13","doi-asserted-by":"publisher","DOI":"10.1287\/orsc.2.1.40"},{"key":"S0269888909990026_ref41","doi-asserted-by":"publisher","DOI":"10.1504\/IJTM.2009.024122"},{"key":"S0269888909990026_ref47","unstructured":"The Gene Ontology Consortium. https:\/\/2.zoppoz.workers.dev:443\/http\/www.geneontology.org"},{"volume-title":"Social Science, Technical Systems, and Cooperative Work: Beyond the Great Divide","year":"1997","author":"Bowker","key":"S0269888909990026_ref12"},{"key":"S0269888909990026_ref57","doi-asserted-by":"publisher","DOI":"10.1136\/jamia.1994.95236141"},{"key":"S0269888909990026_ref55","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"volume-title":"Mental Models: Towards a Cognitive Science of Language, Inference, and Consciousness","year":"1983","author":"Johnson-Laird","key":"S0269888909990026_ref29"},{"key":"S0269888909990026_ref38","unstructured":"OBO. 2007. 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