Toward a Translational Medicine Approach for Hypertrophic Cardiomyopathy

  • Catia M. Machado
  • Francisco M. Couto
  • Alexandra R. Fernandes
  • Susana Santos
  • Ana T. Freitas
Part of the Lecture Notes in Computer Science book series (LNCS, volume 7451)


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.


translational medicine data integration data mining hypertrophic cardiomyopathy clinical decision support systems 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Catia M. Machado
    • 1
  • Francisco M. Couto
    • 1
  • Alexandra R. Fernandes
    • 2
    • 3
    • 4
  • Susana Santos
    • 2
    • 3
  • Ana T. Freitas
    • 5
  1. 1.LaSIGE, Departamento de InformáticaUniversidade de LisboaLisboaPortugal
  2. 2.Universidade Lusófona de Humanidades e TecnologiasLisboaPortugal
  3. 3.Centro de Química Estrutural, Instituto Superior TécnicoLisboaPortugal
  4. 4.Departamento de Ciências da Vida, Faculdade de Ciências e TecnologiaUniversidade Nova de LisboaPortugal
  5. 5.Instituto de Engenharia de Sistemas e Computadores, Instituto Superior TécnicoLisboaPortugal

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