InfEHR: Clinical phenotype resolution through deep geometric learning on electronic health records

Electronic health records contain multimodal data that can inform clinical decisions but are often unsuited for advanced machine learning analyses due to lack of labeled data. Here, we present InfEHR, a framework to automatically compute clinical likelihoods from whole electronic health records without requiring large volumes of labeled training data. InfEHR applies deep geometric learning through a procedure that converts whole electronic health records to temporal graphs that naturally capture phenotypic dynamics, leading to unbiased representations. Using only few labeled examples, InfEHR computes and automatically revises probabilities achieving highly performant inferences, especially in low-prevalence diseases. We test InfEHR using electronic health records from Mount Sinai Health System and UC Irvine Medical Center against physician-provided heuristics on neonatal culture-negative sepsis (3% prevalence) and postoperative acute kidney injury (21% prevalence). InfEHR demonstrated superior performance: for culture-negative sepsis (sensitivity: 0.60 vs. 0.04, specificity: 0.98 vs. 0.99) and post-operative acute kidney injury (sensitivity: 0.71 vs. 0.20, specificity: 0.93 vs. 0.98). Our study demonstrates the application of geometric deep learning in electronic health records for probabilistic inference in real-world clinical settings at scale.

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Publication Details

Journal
Nature Communications
Published
2025-09-26
DOI
https://doi.org/10.1038/s41467-025-63366-6
Citations
4
Primary Topic
Machine Learning in Healthcare
Type
article
Field-Weighted Citation Impact
9.92

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article

InfEHR: Clinical phenotype resolution through deep geometric learning on electronic health records

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4 citations
Nature Communications
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InfEHR: Clinical phenotype resolution through deep geometric learning on electronic health records

Justin Kauffman, Emma Holmes, Patricia Kovatch, Benjamin Scott Glicksberg, Akhil Vaid, Girish N. Nadkarni, Joshua Lampert, Ankit Sakhuja, Ira S. Hofer, Marinka Žitnik, Alexander W. Charney
article en
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Abstract

Electronic health records contain multimodal data that can inform clinical decisions but are often unsuited for advanced machine learning analyses due to lack of labeled data. Here, we present InfEHR, a framework to automatically compute clinical likelihoods from whole electronic health records without requiring large volumes of labeled training data. InfEHR applies deep geometric learning through a procedure that converts whole electronic health records to temporal graphs that naturally capture phenotypic dynamics, leading to unbiased representations. Using only few labeled examples, InfEHR computes and automatically revises probabilities achieving highly performant inferences, especially in low-prevalence diseases. We test InfEHR using electronic health records from Mount Sinai Health System and UC Irvine Medical Center against physician-provided heuristics on neonatal culture-negative sepsis (3% prevalence) and postoperative acute kidney injury (21% prevalence). InfEHR demonstrated superior performance: for culture-negative sepsis (sensitivity: 0.60 vs. 0.04, specificity: 0.98 vs. 0.99) and post-operative acute kidney injury (sensitivity: 0.71 vs. 0.20, specificity: 0.93 vs. 0.98). Our study demonstrates the application of geometric deep learning in electronic health records for probabilistic inference in real-world clinical settings at scale.

Nature CommunicationsVol. 16(1)
Broad Institute (US), Mount Sinai Health System (US), Harvard University Press (US), Mount Sinai Hospital (US), Icahn School of Medicine at Mount Sinai (US)
Georgia Clinical and Translational Science Alliance, National Institutes of Health, National Center for Advancing Translational Sciences
Openalex Percentile: Top 2%
Machine Learning in Healthcare
9.92
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