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
All rights reserved. This work is protected by the corresponding intellectual and industrial property rights. Without prejudice to any existing legal exemptions, reproduction, distribution, public communication or transformation of this work are prohibited without permission of the copyright holder
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.