title: A Data Fusion Approach to Enhance Association Study in Epilepsy.
abstract: 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.
authors.affiliation: Bioinformatics Center, Institute for Chemical Research, Kyoto University, Kyoto, Japan.|Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.
authors.forename: Simone
authors.identifier: http://orcid.org/0000-0002-5704-3533
authors.initials: S
authors.lastname: Marini
authors.affiliation: Genomic Core Center, IRCCS Fondazione San Matteo, Pavia, Italy.|enGenome S.r.l., Via Ferrata 5, Pavia, Italy.|Centre for Health Technologies, University of Pavia, Pavia, Italy.
authors.forename: Ivan
authors.initials: I
authors.lastname: Limongelli
authors.affiliation: enGenome S.r.l., Via Ferrata 5, Pavia, Italy.|Centre for Health Technologies, University of Pavia, Pavia, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Rizzo
authors.affiliation: IRCCS Fondazione S. Maugeri, Pavia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Malovini
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Errichiello
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.|Genomic Core Center, IRCCS Fondazione San Matteo, Pavia, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.affiliation: Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.
authors.forename: Tan
authors.initials: T
authors.lastname: Da
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.|Genomic Core Center, IRCCS Fondazione San Matteo, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.|Centre for Health Technologies, University of Pavia, Pavia, Italy.|IRCCS Fondazione S. Maugeri, Pavia, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Bellazzi
mesh_terms: D000465:Algorithms; D019295:Computational Biology / Q000379:methods*; D004827:Epilepsy / Q000235:genetics*; D053263:Gene Regulatory Networks; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D060066:Protein Interaction Maps