Evidence map›Paper›PMID 41408105›Full record

ArticleNPJ digital medicine2025

A Representation Fusion Framework for Decoupling Diagnostic Information in Multimodal Learning.

Sana Tonekaboni, Sam Freesun Friedman, Xinyi Zhang, Mahnaz Maddah, Caroline Uhler

Abstract 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. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
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

5 authors.

Sana TonekaboniEric and Wendy Schmidt Center, The Broad Institute of MIT and Harvard, Cambridge, USA. stonekab@broadinstitute.org.
Sam Freesun FriedmanEric and Wendy Schmidt Center, The Broad Institute of MIT and Harvard, Cambridge, USA.
Xinyi ZhangEric and Wendy Schmidt Center, The Broad Institute of MIT and Harvard, Cambridge, USA.
Mahnaz MaddahData Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, USA.
Caroline UhlerEric and Wendy Schmidt Center, The Broad Institute of MIT and Harvard, Cambridge, USA. cuhler@mit.edu.

Funding

All of Us Research Program Data and Research CenterOT2OD035404 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Melissa Basford, DAVID GLAZER · 2023 to 2026
$210.4M
Spatial and temporal resolution to dissect cellular circuits controlling intestinal physiology, immunity, and inflammatory pathologiesRC2DK135492 · NIDDK · BROAD INSTITUTE, INC. · PI Caroline Uhler, Ramnik J Xavier · 2023 to 2026
$7.9M
PRISM: Ethically-guided multimodal AI models for predicting disease pathogenesis in individuals with pathogenic variantsUG3HG014379 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI KARCZEWSKI, KONRAD, TATONETTI, NICHOLAS P · 2025 to 2025
$3.2M
Causal Representation Learning for the Spatial Analysis of Transcriptomic and Imaging Data in Tissue ContextsDP2AT012345 · NCCIH · BROAD INSTITUTE, INC. · PI UHLER, CAROLINE · 2022 to 2025
$2.3M
Development of Real-World Motor Outcome Measures in Ataxia-TelangiectasiaR01NS134597 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Anoopum Satyawan Gupta · 2024 to 2026
$1.9M
NCCIH/NIH 1DP2AT012345NCCIH NIH HHS DP2 AT012345NHGRI NIH HHS UG3 HG014379NIDDK NIH HHS RC2 DK135492NIH HHS OT2 OD035404NINDS NIH HHS R01 NS134597Office of Naval Research N00014-22-1-2116 and N00014-24-1-2687Simons Foundation Simons Investigator AwardU.S. Department of Energy DE-SC0023187
6 · The paper itself

Abstract

Modern medicine increasingly relies on multimodal data, ranging from clinical notes to imaging and genomics, to guide diagnosis and treatment. However, integrating these heterogeneous data sources in a principled and interpretable manner remains a major challenge. We present MODES (Multi-mOdal Disentangled Embedding Space), a representation fusion framework that explicitly separates shared and modality-specific factors of variation, offering a structured latent space for multimodal information that improves both prediction and interpretability. By leveraging pre-trained unimodal foundation models, MODES mitigates the dependency on extensive paired datasets, crucial in data-scarce clinical settings. We introduce a masking strategy that optimizes representation dimensionality by eliminating low-information dimensions, to achieve compact, information-rich representations. Our framework demonstrates superior performance in predicting diagnoses and phenotypes compared to unimodal and conventional fusion models. MODES also enables robust diagnostic inference in missing data scenarios, offering an opportunity toward interpretable and efficient multimodal diagnostics in personalized healthcare.

Identifiers

PMID41408105
PMCPMC12712021

What OpenQuestion holds

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Registered trials

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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.