Evidence map›Paper›PMID 32699826›Full record

ArticleNPJ digital medicine2020

Deep representation learning of electronic health records to unlock patient stratification at scale.

Isotta Landi, Benjamin S Glicksberg, Hao-Chih Lee, Sarah Cherng, Giulia Landi, Matteo Danieletto, Joel T Dudley, Cesare Furlanello, Riccardo Miotto

Open access · goldAbstract read
In one paragraph

Article in NPJ digital medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
96citing papers in PubMed, 2 pooled it
12.8field-weighted citation impact, top 1% of its field
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

96 citing papers in PubMed, 2 syntheses or guidelines pooled it, 186 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Review
  6. Article
  7. Multimodal Wearable Biosensing Meets Multidomain AI: A Pathway to Decentralized Healthcare.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Review
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  11. ChatGPT in precision medicine.APL bioengineering · 2026
    Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Knowledge Graph Augmented Large Language Models for Disease Prediction.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2026
    Article
  18. Article
  19. Article
  20. Article

36 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 2 countries.

Isotta LandiBruno Kessler Institute, Povo, TN Italy.ORCID 0000-0003-4212-4709
Benjamin S GlicksbergHasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY USA.ORCID 0000-0003-4515-8090
Hao-Chih LeeInstitute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, New York, NY USA.
Sarah CherngInstitute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, New York, NY USA.
Giulia LandiDepartment of Mental Health and Pathological Addiction, Azienda USL Centro "Santi", Parma, Italy.
Matteo DanielettoHasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY USA.
Joel T DudleyInstitute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, New York, NY USA.
Cesare FurlanelloBruno Kessler Institute, Povo, TN Italy.ORCID 0000-0002-5384-3605
Riccardo MiottoHasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY USA.ORCID 0000-0002-7815-6000
Icahn School of Medicine at Mount Sinai · USAzienda Usl Toscana Centro · ITFondazione Bruno Kessler · ITUniversity of Trento · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Deriving disease subtypes from electronic health records (EHRs) can guide next-generation personalized medicine. However, challenges in summarizing and representing patient data prevent widespread practice of scalable EHR-based stratification analysis. Here we present an unsupervised framework based on deep learning to process heterogeneous EHRs and derive patient representations that can efficiently and effectively enable patient stratification at scale. We considered EHRs of 1,608,741 patients from a diverse hospital cohort comprising a total of 57,464 clinical concepts. We introduce a representation learning model based on word embeddings, convolutional neural networks, and autoencoders (i.e., ConvAE) to transform patient trajectories into low-dimensional latent vectors. We evaluated these representations as broadly enabling patient stratification by applying hierarchical clustering to different multi-disease and disease-specific patient cohorts. ConvAE significantly outperformed several baselines in a clustering task to identify patients with different complex conditions, with 2.61 entropy and 0.31 purity average scores. When applied to stratify patients within a certain condition, ConvAE led to various clinically relevant subtypes for different disorders, including type 2 diabetes, Parkinson's disease, and Alzheimer's disease, largely related to comorbidities, disease progression, and symptom severity. With these results, we demonstrate that ConvAE can generate patient representations that lead to clinically meaningful insights. This scalable framework can help better understand varying etiologies in heterogeneous sub-populations and unlock patterns for EHR-based research in the realm of personalized medicine.

Indexed as

Data processingMachine learning

Identifiers

PMID32699826
PMCPMC7367859
OpenAlexW3042895962

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.