HCM

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(Research Team)
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* [[francisco_couto|Francisco Couto]] (research advisor)
* [[francisco_couto|Francisco Couto]] (research advisor)
* Ana Teresa Freitas (INESC) (research advisor)
* Ana Teresa Freitas (INESC) (research advisor)
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* [[catia_pesquita|Cátia Machado]]
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* [[Catia_Machado|Cátia Machado]]
[[Category:XLDB_Projects]]
[[Category:XLDB_Projects]]

Revision as of 11:18, 12 February 2010

The main objective of the present work consists in the integration and exploration of clinical and biological data, with the purpose of developing a patient characterization and diagnostic system.

HCM is a complex disease, that manifests itself under variable symptoms and to which is associated a great number of genetic mutations. These aspects hinder the obtention of a clinical diagnostic previous to the development of serious symptoms, or even death, due to the difficulty associated with the identification of correlations between the genotypic and phenotypic characteristics of the patients. Through the integration of the data obtained during the study of the disease, namely genetic expression, genotyping and the patient clinical history, it will be possible to mine this data in order to identify the implicit correlations that will provide the obtention of a timely diagnostic.

Prior the data integration step, a semantic model is to be developed in order to define the main concepts, and their relationships, to be stored in the system. The data integration step is to be supported by an information system based on Semantic Web technologies, which will include the development of an ontology at the base of the data mapping. After the integration of the data, its characteristics are to be explored in order to optimize the utilization of data mining algorithms to identify correlations between the patient genotype and its’ phenotype. Already existent data mining algorithms are to be used, and new ones are to be developed, according to their ability to deal with high-dimensionality data.


Research Team

Publications


| BibTeX source
Catia M. Machado, Ana T. Freitas, Francisco Couto, Enrichment analysis applied to disease prognosis. Em: M. Boeker, H. Herre, R. Hoehndorf, F. Loebe (Ed.), 4th Workshop on Ontologies in Biomedicine and Life Sciences (OBML) September, 2012.

Document | BibTeX source
Catia M. Machado, Francisco Couto, Alexandra R. Fernandes, Susana Santos, Ana T. Freitas, Toward a Translational Medicine Approach for Hypertrophic Cardiomyopathy.3rd International Conference on Information Technology in Bio- and Medical Informatics (ITBAM 2012) 2012. Springer-Verlag GmbH Berlin Heidelberg.

Document | BibTeX source
Catia M. Machado, Francisco Couto, Alexandra R. Fernandes, Susana Santos, Nuno Cardim, Ana T. Freitas, Semantic Characterization of Hypertrophic Cardiomyopathy Disease.First Workshop on Knowledge Engineering, Discovery and Dissemination in Health (KEDDH10), held in conjunction with The IEEE International Conference on Bioinformatics % Biomedicine (BIBM 2010) 2010.

| BibTeX source
Catia M. Machado, Francisco Couto, Alexandra R. Fernandes, Susana Santos, Nuno Cardim, Ana T. Freitas 2010: Unraveling Hypertrophic Cardiomyopathy Variability. ERCIM News 82 - Special Theme: Computational Biology.


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