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Abstract #60281 Published in IGR 16-4
Genome-wide genetic interaction analysis of glaucoma using expert knowledge derived from human phenotype networks
Hu T; Darabos C; Cricco ME; Kong E; Moore JHPacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2015; 0: 207-218
The large volume of GWAS data poses great computational challenges for analyzing genetic interactions associated with common human diseases. We propose a computational framework for characterizing epistatic interactions among large sets of genetic attributes in GWAS data. We build the human phenotype network (HPN) and focus around a disease of interest. In this study, we use the GLAUGEN glaucoma GWAS dataset and apply the HPN as a biological knowledge-based filter to prioritize genetic variants. Then, we use the statistical epistasis network (SEN) to identify a significant connected network of pairwise epistatic interactions among the prioritized SNPs. These clearly highlight the complex genetic basis of glaucoma. Furthermore, we identify key SNPs by quantifying structural network characteristics. Through functional annotation of these key SNPs using Biofilter, a software accessing multiple publicly available human genetic data sources, we find supporting biomedical evidences linking glaucoma to an array of genetic diseases, proving our concept. We conclude by suggesting hypotheses for a better understanding of the disease.
Institute for the Quantitative Biomedical Sciences, Geisel School of Medicine, Dartmouth College, Hanover, NH 03755, U.S.A.
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
