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2009 Annual International Conference of the IEEE Engineering in Medicine and Biology Society

DOI: 10.1109/iembs.2009.5332918

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Search of phenotype-related candidate genes using Gene Ontology-based semantic similarity and protein interaction information: application to Brugada syndrome

This paper is available in a repository.
This paper is available in a repository.

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Abstract

This work presents a methodology for finding phenotype candidate genes starting from a set of known related genes. This is accomplished by automatically mining and organizing the available scientific literature using Gene Ontology-based semantic similarity. As a case study, Brugada syndrome related genes have been used as input in order to obtain a list of other possible candidate genes related with this disease. Brugada anomaly produces a typical alteration in the Electrocardiogram and carriers of the disease show an increased probability of sudden death. Results show a set of semantically coherent proteins that are shown to be related with synaptic transmission and muscle contraction physiological processes. ; Peer Reviewed ; Postprint (published version)