A Data Fusion Approach to Enhance Association Study in Epilepsy.
Simone MariniIvan LimongelliEttore RizzoAlberto MaloviniEdoardo ErrichielloAnnalisa VetroTan DaOrsetta ZuffardiRiccardo BellazziPublished in: PloS one (2016)
Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and predictive models for prognosis and personalized therapies. In this paper, we present a data fusion framework merging gene, domain, pathway and protein-protein interaction data related to a next generation sequencing epilepsy gene panel. Our method allows integrating association information from multiple genomic sources and aims at highlighting the set of common and rare variants that are capable to trigger the occurrence of a complex disease. When compared to other approaches, our method shows better performances in classifying patients affected by epilepsy.
Keyphrases
- copy number
- protein protein
- electronic health record
- genome wide
- big data
- end stage renal disease
- ejection fraction
- newly diagnosed
- machine learning
- dna methylation
- risk assessment
- small molecule
- chronic kidney disease
- drinking water
- data analysis
- peritoneal dialysis
- genome wide identification
- artificial intelligence
- transcription factor
- health information
- patient reported