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Search of phenotype-related candidate genes using Gene Ontology-based semantic similarity and protein interaction information: application to Brugada syndrome
Massanet Vila, Raimon; Gallardo Chacón, Joan Josep; Caminal Magrans, Pere; Perera Lluna, Alexandre
Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial; Universitat Politècnica de Catalunya. SISBIO - Senyals i Sistemes Biomèdics
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
Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica
Brugada syndrome
Ontologies (artificial intelligence)
Electrocardiography
Heart--Diseases -- Genetic aspects
Síndrome de Brugada
Malalties coronàries
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/conferenceObject
IEEE Press. Institute of Electrical and Electronics Engineers
         

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