{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T20:36:17Z","timestamp":1781037377545,"version":"3.54.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"National Institutes of Health\u2019s National Center for Advancing Translational Sciences","award":["TR002243"],"award-info":[{"award-number":["TR002243"]}]},{"name":"Vanderbilt University Department of Biostatistics Development Award"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Electronic health records (EHRs) linked with a DNA biobank provide unprecedented opportunities for biomedical research in precision medicine. The Phenome-wide association study (PheWAS) is a widely used technique for the evaluation of relationships between genetic variants and a large collection of clinical phenotypes recorded in EHRs. PheWAS analyses are typically presented as static tables and charts of summary statistics obtained from statistical tests of association between a genetic variant and individual phenotypes. Comorbidities are common and typically lead to complex, multivariate gene\u2013disease association signals that are challenging to interpret. Discovering and interrogating multimorbidity patterns and their influence in PheWAS is difficult and time-consuming. We present PheWAS-ME: an interactive dashboard to visualize individual-level genotype and phenotype data side-by-side with PheWAS analysis results, allowing researchers to explore multimorbidity patterns and their associations with a genetic variant of interest. We expect this application to enrich PheWAS analyses by illuminating clinical multimorbidity patterns present in the data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>A demo PheWAS-ME application is publicly available at https:\/\/prod.tbilab.org\/phewas_me\/. Sample datasets are provided for exploration with the option to upload custom PheWAS results and corresponding individual-level data. Online versions of the appendices are available at https:\/\/prod.tbilab.org\/phewas_me_info\/. The source code is available as an R package on GitHub (https:\/\/github.com\/tbilab\/multimorbidity_explorer).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Supplementary information<\/jats:title>\n                    <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btaa870","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T17:35:55Z","timestamp":1601400955000},"page":"1778-1780","source":"Crossref","is-referenced-by-count":11,"title":["PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4704-7124","authenticated-orcid":false,"given":"Nick","family":"Strayer","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University , Nashville, TN 37203, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana K","family":"Shirey-Rice","sequence":"additional","affiliation":[{"name":"Department of Medical Administration, Vanderbilt University School of Medicine , Nashville, TN 37232, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Shyr","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University , Nashville, TN 37203, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua C","family":"Denny","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics, Vanderbilt University , Nashville, TN 37203, USA"},{"name":"Department of Medicine, Vanderbilt University School of Medicine , Nashville, TN 37232, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill M","family":"Pulley","sequence":"additional","affiliation":[{"name":"Department of Medical Administration, Vanderbilt University School of Medicine , Nashville, TN 37232, USA"},{"name":"Department of Medicine, Office of Research, Vanderbilt University School of Medicine , Nashville, TN 37232, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3752-4006","authenticated-orcid":false,"given":"Yaomin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University , Nashville, TN 37203, USA"},{"name":"Department of Biomedical Informatics, Vanderbilt University , Nashville, TN 37203, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,11]]},"reference":[{"key":"2023051709454722300_btaa870-B1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J. 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