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

Author:

Kerley Cailey I1ORCID,Nguyen Tin Q23,Ramadass Karthik4,Cutting Laurie E23,Landman Bennett A12456,Berger Matthew4

Affiliation:

1. Department of Electrical & Computer Engineering, Vanderbilt University , Nashville, Tennessee, USA

2. Vanderbilt Brain Institute, Vanderbilt University Medical Center , Nashville, Tennessee, USA

3. Department of Special Education, Peabody College of Education and Human Development , Nashville, Tennessee, USA

4. Department of Computer Science, Vanderbilt University , Nashville, Tennessee, USA

5. Vanderbilt University Institute of Imaging Science, Vanderbilt University , Nashville, Tennessee, USA

6. Department of Biomedical Engineering, Vanderbilt University , Nashville, Tennessee, USA

Abstract

AbstractObjectiveTo enable interactive visualization of phenome-wide association studies (PheWAS) on electronic health records (EHR).Materials and MethodsCurrent PheWAS technologies require familiarity with command-line interfaces and lack end-to-end data visualizations. pyPheWAS Explorer allows users to examine group variables, test assumptions, design PheWAS models, and evaluate results in a streamlined graphical interface.ResultsA cohort of attention deficit hyperactivity disorder (ADHD) subjects and matched non-ADHD controls is examined. pyPheWAS Explorer is used to build a PheWAS model including sex and deprivation index as covariates, and the Explorer’s result visualization for this model reveals known ADHD comorbidities.DiscussionpyPheWAS Explorer may be used to rapidly investigate potentially novel EHR associations. Broader applications include deployment for clinical experts and preliminary exploration tools for institutional EHR repositories.ConclusionpyPheWAS Explorer provides a seamless graphical interface for designing, executing, and analyzing PheWAS experiments, emphasizing exploratory analysis of regression types and covariate selection.

Funder

National Institute of Health

Publisher

Oxford University Press (OUP)

Subject

Health Informatics

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