pyPheWAS Explorer: a visualization tool for exploratory analysis of phenome-disease associations

Cailey I. Kerley, Tin Q. Nguyen, Karthik Ramadass, Laurie E. Cutting, Bennett A. Landman, and Matthew Berger. “pyPheWAS Explorer: A Visualization Tool for Exploratory Analysis of Phenome-Disease Associations.” JAMIA Open, vol. 6, no. 1, 2023,

Objective: This study aims to provide an easy-to-use tool for visualizing phenome-wide association studies (PheWAS) using electronic health records (EHR).

Materials and Methods: Current PheWAS tools are complicated, requiring command-line skills and lacking full visualizations. The new tool, pyPheWAS Explorer, offers a graphical interface to help users analyze variables, test assumptions, design models, and view results seamlessly.

Results: The tool was tested with data from individuals with attention deficit hyperactivity disorder (ADHD) and a control group. Using pyPheWAS Explorer, researchers created a model that included sex and socioeconomic status as factors. The tool effectively highlighted known ADHD-related health issues.

Discussion: pyPheWAS Explorer can quickly uncover new EHR associations, making it useful for clinical experts and as an initial exploration tool for institutional EHR databases.

Conclusion: pyPheWAS Explorer simplifies the process of designing, running, and analyzing PheWAS studies, focusing on exploratory data analysis and covariate selection through an intuitive graphical interface.

Figure 2. pyPheWAS Explorer Regression Builder Panel. For demonstration, a cohort of ADHD cases and non-ADHD controls is shown. Group variables in this dataset included minimum/maximum age at visit (MinAgeAtVisit/MaxAgeAtVisit), biological sex, body mass index (BMI), and deprivation index (DEP_INDEX). The right side of this panel shows the variables sex and deprivation index loaded into the variable comparison view, while the model selection view shows the same variables added to a binary PheWAS model. Color encodings for the case and control groups, correlations, and regression coefficients are shown along the top bar.

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