title: Exploring and exploiting disease interactions from multi-relational gene and phenotype networks.
abstract: The availability of electronic health care records is unlocking the potential for novel studies on understanding and modeling disease co-morbidities based on both phenotypic and genetic data. Moreover, the insurgence of increasingly reliable phenotypic data can aid further studies on investigating the potential genetic links among diseases. The goal is to create a feedback loop where computational tools guide and facilitate research, leading to improved biological knowledge and clinical standards, which in turn should generate better data. We build and analyze disease interaction networks based on data collected from previous genetic association studies and patient medical histories, spanning over 12 years, acquired from a regional hospital. By exploring both individual and combined interactions among these two levels of disease data, we provide novel insight into the interplay between genetics and clinical realities. Our results show a marked difference between the well defined structure of genetic relationships and the chaotic co-morbidity network, but also highlight clear interdependencies. We demonstrate the power of these dependencies by proposing a novel multi-relational link prediction method, showing that disease co-morbidity can enhance our currently limited knowledge of genetic association. Furthermore, our methods for integrated networks of diverse data are widely applicable and can provide novel advances for many problems in systems biology and personalized medicine.
authors.affiliation: Interdisciplinary Center for Network Science and Applications, Department of Computer Science and Engineering, University of Notre Dame, Notre Dame, Indiana, United States of America.
authors.forename: Darcy A
authors.initials: DA
authors.lastname: Davis
authors.forename: Nitesh V
authors.initials: NV
authors.lastname: Chawla
mesh_terms: D002874:Chromosome Mapping; D016208:Databases, Factual; D053263:Gene Regulatory Networks; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D010641:Phenotype; D049490:Systems Biology