Toward a translational medicine approach for hypertrophic cardiomyopathy

Cátia M. Machado; Francisco M. Couto; Alexandra R. Fernandes; Susana Santos; Ana T. Freitas

doi:10.1007/978-3-642-32395-9_12

Toward a translational medicine approach for hypertrophic cardiomyopathy

Cátia M. Machado, Francisco M. Couto, Alexandra R. Fernandes, Susana Santos, Ana T. Freitas

DCV - Departamento de Ciências da Vida

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

Abstract

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.

Original language	English
Title of host publication	Information Technology in Bio- and Medical Informatics
Subtitle of host publication	Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings
Editors	Christian Böhm, Sami Khuri, Lenka Lhotská, M. Elena Renda
Place of Publication	Berlin
Publisher	Springer
Pages	151-165
Number of pages	15
ISBN (Electronic)	978-3-642-32395-9
ISBN (Print)	978-3-642-32394-2
DOIs	https://doi.org/10.1007/978-3-642-32395-9_12
Publication status	Published - 5 Sept 2012
Event	3rd International Conference on Information Technology in Bio- and Medical Informatics, ITBAM 2012 - Vienna, Austria Duration: 4 Sept 2012 → 5 Sept 2012

Publication series

Name	Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Publisher	Springer
Volume	7451 LNCS
ISSN (Print)	0302-9743
ISSN (Electronic)	1611-3349

Conference

Conference	3rd International Conference on Information Technology in Bio- and Medical Informatics, ITBAM 2012
Country/Territory	Austria
City	Vienna
Period	4/09/12 → 5/09/12

Keywords

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

Access to Document

10.1007/978-3-642-32395-9_12

Cite this

Machado, C. M., Couto, F. M., Fernandes, A. R., Santos, S., & Freitas, A. T. (2012). Toward a translational medicine approach for hypertrophic cardiomyopathy. In C. Böhm, S. Khuri, L. Lhotská, & M. E. Renda (Eds.), Information Technology in Bio- and Medical Informatics: Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings (pp. 151-165). (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 7451 LNCS). Springer. https://doi.org/10.1007/978-3-642-32395-9_12

Machado, Cátia M. ; Couto, Francisco M. ; Fernandes, Alexandra R. et al. / Toward a translational medicine approach for hypertrophic cardiomyopathy. Information Technology in Bio- and Medical Informatics: Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings. editor / Christian Böhm ; Sami Khuri ; Lenka Lhotská ; M. Elena Renda. Berlin : Springer, 2012. pp. 151-165 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)).

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Machado, CM, Couto, FM, Fernandes, AR, Santos, S & Freitas, AT 2012, Toward a translational medicine approach for hypertrophic cardiomyopathy. in C Böhm, S Khuri, L Lhotská & ME Renda (eds), Information Technology in Bio- and Medical Informatics: Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings. Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), vol. 7451 LNCS, Springer, Berlin, pp. 151-165, 3rd International Conference on Information Technology in Bio- and Medical Informatics, ITBAM 2012, Vienna, Austria, 4/09/12. https://doi.org/10.1007/978-3-642-32395-9_12

Toward a translational medicine approach for hypertrophic cardiomyopathy. / Machado, Cátia M.; Couto, Francisco M.; Fernandes, Alexandra R. et al.
Information Technology in Bio- and Medical Informatics: Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings. ed. / Christian Böhm; Sami Khuri; Lenka Lhotská; M. Elena Renda. Berlin: Springer, 2012. p. 151-165 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 7451 LNCS).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review

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T1 - Toward a translational medicine approach for hypertrophic cardiomyopathy

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AU - Couto, Francisco M.

AU - Fernandes, Alexandra R.

AU - Santos, Susana

AU - Freitas, Ana T.

PY - 2012/9/5

Y1 - 2012/9/5

N2 - 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.

AB - 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.

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KW - data integration

KW - data mining

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DO - 10.1007/978-3-642-32395-9_12

M3 - Conference contribution

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SN - 978-3-642-32394-2

T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

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EP - 165

BT - Information Technology in Bio- and Medical Informatics

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A2 - Khuri, Sami

A2 - Lhotská, Lenka

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PB - Springer

CY - Berlin

T2 - 3rd International Conference on Information Technology in Bio- and Medical Informatics, ITBAM 2012

Y2 - 4 September 2012 through 5 September 2012

ER -

Machado CM, Couto FM, Fernandes AR, Santos S, Freitas AT. Toward a translational medicine approach for hypertrophic cardiomyopathy. In Böhm C, Khuri S, Lhotská L, Renda ME, editors, Information Technology in Bio- and Medical Informatics: Third International Conference, ITBAM 2012, Vienna, Austria, September 4-5, 2012, Proceedings. Berlin: Springer. 2012. p. 151-165. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)). doi: 10.1007/978-3-642-32395-9_12

Toward a translational medicine approach for hypertrophic cardiomyopathy

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