PolyGenie: An Interactive Platform for Visualising Polygenic Risk Across Multidimensional Cohorts
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Summary
Polygenic risk scores (PRS) quantify genetic liability to complex traits and diseases and have become increasingly powerful with the growth of large-scale GWAS summary statistics. Longitudinal population cohorts that integrate genetic, clinical, and lifestyle data provide a unique opportunity to explore PRS-trait associations within a unified framework. However, tools for systematic and interactive visualisation of these associations remain limited. We present PolyGenie, a web-based platform for phenome-wide exploration of PRS across diverse clinical and molecular phenotypes. Currently applied to 5,000 individuals from the GCAT cohort, PolyGenie integrates over 100 trait-specific PRS with a broad range of outcomes, including diseases, metabolite levels, lifestyle factors, and environmental exposures. The platform supports interactive PheWAS-style plots and outcome prevalence visualisation across PRS percentiles, enabling rapid interpretation of pleiotropy, genetic correlations, and population-level risk trends.
Availability and Implementation
PolyGenie is freely available at https://polygenie.igtp.cat . The source code is available at ( https://github.com/gcatbiobank/polygenie ).
