PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis.

PheWAS UK Biobank electrical health records (EHR) interactive network analysis interoperability and reproducibility multimorbidity

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
30 Jul 2023
Historique:
pubmed: 7 8 2023
medline: 7 8 2023
entrez: 7 8 2023
Statut: epublish

Résumé

Multimorbidity, characterized by the simultaneous occurrence of multiple diseases in an individual, is an increasing global health concern, posing substantial challenges to healthcare systems. Comprehensive understanding of disease-disease interactions and intrinsic mechanisms behind multimorbidity can offer opportunities for innovative prevention strategies, targeted interventions, and personalized treatments. Yet, there exist limited tools and datasets that characterize multimorbidity patterns across different populations. To bridge this gap, we used large-scale electronic health record (EHR) systems to develop the Phenome-wide Multi-Institutional Multimorbidity Explorer (PheMIME), which facilitates research in exploring and comparing multimorbidity patterns among multiple institutions, potentially leading to the discovery of novel and robust disease associations and patterns that are interoperable across different systems and organizations. PheMIME integrates summary statistics from phenome-wide analyses of disease multimorbidities. These are currently derived from three major institutions: Vanderbilt University Medical Center, Mass General Brigham, and the UK Biobank. PheMIME offers interactive exploration of multimorbidity through multi-faceted visualization. Incorporating an enhanced version of associationSubgraphs, PheMIME enables dynamic analysis and inference of disease clusters, promoting the discovery of multimorbidity patterns. Once a disease of interest is selected, the tool generates interactive visualizations and tables that users can delve into multimorbidities or multimorbidity networks within a single system or compare across multiple systems. The utility of PheMIME is demonstrated through a case study on schizophrenia. The PheMIME knowledge base and web application are accessible at https://prod.tbilab.org/PheMIME/. A comprehensive tutorial, including a use-case example, is available at https://prod.tbilab.org/PheMIME_supplementary_materials/. Furthermore, the source code for PheMIME can be freely downloaded from https://github.com/tbilab/PheMIME. The data underlying this article are available in the article and in its online web application or supplementary material.

Identifiants

pubmed: 37547012
doi: 10.1101/2023.07.23.23293047
pmc: PMC10402210
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR000445
Pays : United States
Organisme : NCRR NIH HHS
ID : S10 RR025141
Pays : United States
Organisme : NIGMS NIH HHS
ID : RC2 GM092618
Pays : United States
Organisme : NIGMS NIH HHS
ID : P50 GM115305
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG006378
Pays : United States
Organisme : NHLBI NIH HHS
ID : U19 HL065962
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH118233
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD074711
Pays : United States
Organisme : NIDDK NIH HHS
ID : R21 DK127075
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR024975
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS032830
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG004798
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002243
Pays : United States

Déclaration de conflit d'intérêts

Competing Interest Statement The authors have declared no competing interest.

Auteurs

Siwei Zhang (S)

Department of Biostatistics, Vanderbilt University, Nashville, TN, USA.

Nick Strayer (N)

Posit PBC, Boston, MA, USA.

Tess Vessels (T)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Karmel Choi (K)

Psychiatric & Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston MA.
Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston MA.

Geoffrey W Wang (GW)

Department of Statistics, North Carolina State University.

Yajing Li (Y)

Department of Biostatistics, Vanderbilt University, Nashville, TN, USA.

Cosmin A Bejan (CA)

Department of Biomedical informatics, Vanderbilt University, Nashville, TN, USA.

Ryan S Hsi (RS)

Department of Urology, Vanderbilt University Medical Center, Nashville, TN, USA.

Alexander G Bick (AG)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Digna R Velez Edwards (DR)

Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.

Michael R Savona (MR)

Division of Hematology and Oncology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Elizabeth J Philips (EJ)

Center for Drug Safety and Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, Western Australia, Australia.

Jill Pulley (J)

Vanderbilt Institute for Clinical and Translational Science, Vanderbilt University Medical Center, Nashville, TN, USA.

Wesley H Self (WH)

Vanderbilt Institute for Clinical and Translational Science, Vanderbilt University Medical Center, Nashville, TN, USA.

Wilkins Consuelo Hopkins (WC)

Vanderbilt Institute for Clinical and Translational Science, Vanderbilt University Medical Center, Nashville, TN, USA.

Dan M Roden (DM)

Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.

Jordan W Smoller (JW)

Psychiatric & Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston MA.
Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston MA.
Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA.

Douglas M Ruderfer (DM)

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Biomedical informatics, Vanderbilt University, Nashville, TN, USA.
Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.

Yaomin Xu (Y)

Department of Biostatistics, Vanderbilt University, Nashville, TN, USA.
Department of Biomedical informatics, Vanderbilt University, Nashville, TN, USA.

Classifications MeSH