PheMIME: an interactive web app and knowledge base for phenome-wide, multi-institutional multimorbidity analysis

Author:

Zhang Siwei1ORCID,Strayer Nick2,Vessels Tess3,Choi Karmel45,Wang Geoffrey W6,Li Yajing1,Bejan Cosmin A7,Hsi Ryan S8,Bick Alexander G3,Velez Edwards Digna R9,Savona Michael R10,Phillips Elizabeth J1112,Pulley Jill M13,Self Wesley H13,Hopkins Wilkins Consuelo13,Roden Dan M14,Smoller Jordan W4515,Ruderfer Douglas M3716,Xu Yaomin17ORCID

Affiliation:

1. Department of Biostatistics, Vanderbilt University Medical Center , Nashville, TN 37203, United States

2. Posit PBC , Boston, MA 02210, United States

3. Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37232, United States

4. Psychiatric & Neuro Developmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114, United States

5. Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital , Boston, MA 02114, United States

6. Department of Statistics, North Carolina State University , Raleigh, NC 27695, United States

7. Department of Biomedical Informatics, Vanderbilt University Medical Center , Nashville, TN 37203, United States

8. Department of Urology, Vanderbilt University Medical Center , Nashville, TN 37232, United States

9. Department of Obstetrics and Gynecology, Vanderbilt University Medical Center , Nashville, TN 37232, United States

10. Division of Hematology and Oncology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37232, United States

11. Center for Drug Safety and Immunology, Department of Medicine, Vanderbilt University Medical Center , Nashville, TN 37232, United States

12. Institute for Immunology and Infectious Diseases, Murdoch University , Murdoch, WA 6150, Australia

13. Vanderbilt Institute for Clinical and Translational Science, Vanderbilt University Medical Center , Nashville, TN 37203, United States

14. Department of Pharmacology, Vanderbilt University Medical Center , Nashville, TN 37232, United States

15. Stanley Center for Psychiatric Research, Broad Institute , Cambridge, MA 02142, United States

16. Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center , Nashville, TN 37212, United States

Abstract

Abstract Objectives To address the need for interactive visualization tools and databases in characterizing multimorbidity patterns across different populations, we developed the Phenome-wide Multi-Institutional Multimorbidity Explorer (PheMIME). This tool leverages three large-scale EHR systems to facilitate efficient analysis and visualization of disease multimorbidity, aiming to reveal both robust and novel disease associations that are consistent across different systems and to provide insight for enhancing personalized healthcare strategies. Materials and Methods PheMIME integrates summary statistics from phenome-wide analyses of disease multimorbidities, utilizing data from Vanderbilt University Medical Center, Mass General Brigham, and the UK Biobank. It offers interactive and multifaceted visualizations for exploring multimorbidity. Incorporating an enhanced version of associationSubgraphs, PheMIME also enables dynamic analysis and inference of disease clusters, promoting the discovery of complex multimorbidity patterns. A case study on schizophrenia demonstrates its capability for generating interactive visualizations of multimorbidity networks within and across multiple systems. Additionally, PheMIME supports diverse multimorbidity-based discoveries, detailed further in online case studies. Results The PheMIME is accessible at https://prod.tbilab.org/PheMIME/. A comprehensive tutorial and multiple case studies for demonstration are available at https://prod.tbilab.org/PheMIME_supplementary_materials/. The source code can be downloaded from https://github.com/tbilab/PheMIME. Discussion PheMIME represents a significant advancement in medical informatics, offering an efficient solution for accessing, analyzing, and interpreting the complex and noisy real-world patient data in electronic health records. Conclusion PheMIME provides an extensive multimorbidity knowledge base that consolidates data from three EHR systems, and it is a novel interactive tool designed to analyze and visualize multimorbidities across multiple EHR datasets. It stands out as the first of its kind to offer extensive multimorbidity knowledge integration with substantial support for efficient online analysis and interactive visualization.

Funder

Vanderbilt University Department of Biostatistics Development Award

Publisher

Oxford University Press (OUP)

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