Applying the Principles of an Ontology-Based Approach to a Conceptual Schema of Human Genome

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Authors: Ana Ma Martínez Ferrandis, Giancarlo Guizzardi

Tags: 2013, conceptual modeling, Óscar Pastor López

Understanding the Human Genome is currently a significant challenge. Having a Conceptual Schema of Human Genome (CSHG) is in this context a first step to link a sound Information Systems Design approach with Bioinformatics. But this is not enough. The use of an adequate ontological commitment is essential to fix the real-world semantics of the analyzed domain. Starting from a concrete proposal for CSHG, the main goal of this paper is to apply the principles of a foundational ontology, as it is UFO, to make explicit the ontological commitments underlying the concepts represented in the Conceptual Schema. As demonstrated in the paper, this ontological analysis is also able to highlight some conceptual drawbacks present in the initial version of the CSHG.

Read the full paper here: https://link.springer.com/chapter/10.1007/978-3-642-41924-9_40