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iPheGWAS : an intelligent computational framework to integrate and visualise genome-phenome wide association studies

Gittu GeorgeiD, Yu HuangiD, Sushrima GaniD, Aditya Nar, Jason James HaiD, Venkatesan RadhaiD, Viswanathan MohaniD, Huan WangiD, Andrew BrowniD, Colin N. A. PalmeriD, Alex S. F. DoneyiD

Abstract

Estimating the genetic correlations by LDSC is computationally demanding and visualising multiple GWAS results along with their genetic relationships is restricted. This study developed iPheGWAS, a novel approach which applied hierarchical clustering to GWAS summary statistics to (i) calculate their genetic relatedness, and (ii) enable three-dimensional visualisation of multiple ordered GWAS plots. Simulation and real-world data analysis demonstrated that when investigating genetic relationships among multiple phenotypes, iPheGWAS can deliver comparable results with LDSC but with 8 times faster computational speed. It can also provide novel findings in studying genetically-correlated comorbidities, such as mental illness and rheumatoid arthritis.

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