Search of phenotype related candidate genes using gene ontology-based semantic similarity and protein interaction information: Application to Brugada syndrome
- Resource Type
- Conference
- Authors
- Massanet, Raimon; Gallardo-ChacOn, Joan-Josep; Caminal, Pere; Perera, Alexandre
- Source
- 2009 Annual International Conference of the IEEE Engineering in Medicine and Biology Society Engineering in Medicine and Biology Society, 2009. EMBC 2009. Annual International Conference of the IEEE. :7079-7082 Sep, 2009
- Subject
- Bioengineering
Computing and Processing
Ontologies
Proteins
Information resources
Diseases
Genetics
Bioinformatics
Databases
Biological processes
Instruction sets
USA Councils
- Language
- ISSN
- 1094-687X
1558-4615
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.