Experiences with modeling composite phenotypes in the SKELETOME project

Authors:
Tudor Groza;Andreas Zankl;Jane Hunter
Affiliations:
School of ITEE, The University of Queensland, Australia;Bone Dysplasia Research Group, UQ Centre for Clinical Research (UQCCR), The University of Queensland, Australia;School of ITEE, The University of Queensland, Australia
Venue:
ISWC'12 Proceedings of the 11th international conference on The Semantic Web - Volume Part II
Year:
2012

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Abstract

Semantic annotation of patient data in the skeletal dysplasia domain (e.g., clinical summaries) is a challenging process due to the structural and lexical differences existing between the terms used to describe radiographic findings. In this paper we propose an ontology aimed at representing the intrinsic structure of such radiographic findings in a standard manner, in order to bridge the different lexical variations of the actual terms. Furthermore, we describe and evaluate an algorithm capable of mapping concepts of this ontology to exact or broader terms in the main phenotype ontology used in the bone dysplasia domain.