Toward a Translational Medicine Approach for Hypertrophic Cardiomyopathy

摘要

Hypertrophic cardiomyopathy (HCM) is a complex genetic disease characterized by a variable clinical presentation and onset, as well as a high number of associated mutations. Therefore, this disease is a good candidate for a translational medicine approach to assist in its prognosis. For this purpose, we propose a framework containing two components: one for data integration, and another for data analysis based on clinical-genetic associations obtained with data mining techniques. In this article we present the implementation of the first component. At its basis is a semantic data model developed in OWL representing the clinical and genetic data necessary for the characterization of HCM patients. This model follows a modular approach and includes mappings to controlled vocabularies such as the NCI Thesaurus and SNOMED-Clinical Terms. The development of the model has been done in collaboration with biomedical experts, who are also the providers of the data to populate it.