Evidence map›Paper›PMID 40813607›Full record

ArticleNPJ digital medicine2025

Transformer patient embedding using electronic health records enables patient stratification and progression analysis.

Su Xian, Monika E Grabowska, Iftikhar J Kullo, Yuan Luo, Jordan W Smoller, Theresa L Walunas, Wei-Qi Wei, Gail P Jarvik, Sean D Mooney, David R Crosslin

Erratum issuedAbstract read
In one paragraph

Article in NPJ digital medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Su XianDepartment of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA. suxian06@gmail.com.
Monika E GrabowskaDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Iftikhar J KulloDepartment of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic Rochester Minnesota, Rochester, MN, USA.
Yuan LuoDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Theresa L WalunasDepartment of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Gail P JarvikDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.
Sean D MooneyCenter for Information Technology, National Institutes of Health, Bethesda, MD, USA.
David R CrosslinDepartment of Medicine, Division of Biomedical Informatics and Genomics, Tulane University, New Orleans, LA, USA.

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Sex-Based Precision Medicine Research CoreP20GM152305 · NIGMS · TULANE UNIVERSITY OF LOUISIANA · PI Marie Krousel-Wood, Franck Mauvais-Jarvis · 2024 to 2026
$8.9M
Medical Scientist Training ProgramT32GM152284 · NIGMS · VANDERBILT UNIVERSITY · PI Christopher S. Williams · 2024 to 2026
$4.8M
NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01HG008657NIGMS NIH HHS P20 GM152305NIGMS NIH HHS T32 GM007347NIGMS NIH HHS T32 GM152284
6 · The paper itself

Abstract

Current studies regarding the secondary use of electronic health records (EHR) predominantly rely on domain expertise and existing medical knowledge. A powerful representation approach can unleash the potential of discovering new medical patterns underlying the EHR. Here, we introduce an unsupervised method for embedding high-dimensional EHR data at the patient level to characterize heterogeneity in complex diseases and identify novel disease patterns linked to disparities in clinical outcomes. We applied this approach to 34,851 unique medical codes across 1,046,649 longitudinal patient events, including 102,740 patients in the Electronic Medical Records and GEnomics (eMERGE) Network. The model achieved strong predictive performance in predicting future disease (median AUROC = 0.87 within one year) and bulk phenotyping (median AUROC = 0.84). Notably, these patient embeddings revealed diverse comorbidity profiles and health outcomes, including distinct subtypes and progression patterns in colorectal cancer and systemic lupus erythematosus.

Identifiers

PMID40813607
PMCPMC12354887

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.