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A Data Fusion Approach to Enhance Association Study in Epilepsy.

Authors :
Marini, Simone
Limongelli, Ivan
Rizzo, Ettore
Malovini, Alberto
Errichiello, Edoardo
Vetro, Annalisa
Da, Tan
Zuffardi, Orsetta
Bellazzi, Riccardo
Source :
PLoS ONE; 12/16/2016, Vol. 11 Issue 12, p1-16, 16p
Publication Year :
2016

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
19326203
Volume :
11
Issue :
12
Database :
Complementary Index
Journal :
PLoS ONE
Publication Type :
Academic Journal
Accession number :
120264167
Full Text :
https://doi.org/10.1371/journal.pone.0164940