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

George, G.; Huang, Y.; Gan, S.; Nar, A. S.; Ha, J.; Venkatesan, R.; Mohan, V.; Wang, H.; Brown, A.; Palmer, C. N. A.; Doney, A.

2022-03-07 bioinformatics
10.1101/2022.03.05.483121 bioRxiv
Show 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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