Search of phenotype-related candidate genes using Gene Ontology-based semantic similarity and protein interaction information: application to Brugada syndrome
Document typeConference report
PublisherIEEE Press. Institute of Electrical and Electronics Engineers
Rights accessOpen Access
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.
CitationMassanet, R. [et al.]. Search of phenotype-related candidate genes using Gene Ontology-based semantic similarity and protein interaction information: application to Brugada syndrome. A: IEEE Engineering in Medicine and Biology Society. Annual International Conference. "31st Annual International IEEE EMBS Conference". Minneapolis: IEEE Press. Institute of Electrical and Electronics Engineers, 2009, p. 7079-7082.
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