Evidence map›Paper›PMID 41918129›Full record

ArticleGenome biology2026

HistoGWAS: an AI-enabled framework for automated genetic analysis of tissue phenotypes in histology cohorts.

Shubham Chaudhary, Almut Voigts, Michael Bereket, Matthew L Albert, Kristina Schwamborn, Eleftheria Zeggini, Francesco Paolo Casale

Abstract read
In one paragraph

Article in Genome biology, 2026. 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
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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

7 authors.

Shubham ChaudharyInstitute of AI for Health, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Almut VoigtsInstitute of AI for Health, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.
Michael BereketDepartment of Computer Science, Stanford University, Stanford, CA, USA.
Matthew L AlbertOctant Biosciences, San Francisco, CA, USA.
Kristina SchwambornInstitute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany.
Eleftheria ZegginiTUM School of Medicine and Health, Technical University of Munich and Klinikum Rechts Der Isar, Munich, Germany.
Francesco Paolo CasaleInstitute of AI for Health, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany. francescopaolo.casale@helmholtz-munich.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Understanding how genetic variation shapes tissue structure is crucial for disease biology, yet scalable, general-purpose frameworks for genetic analysis of histology traits are lacking. We present HistoGWAS, a framework for genome-wide association studies of histology data that leverages foundation models for automated trait definition, variance component models for efficient association testing, and generative models for variant effect interpretation. Applied to 11 tissues from the Genotype-Tissue Expression project, HistoGWAS identifies four genome-wide significant loci associated with tissue histology-tissue quantitative trait loci (tissueQTLs)-which we link to molecular changes and complex traits. Power analyses demonstrate scalability to population-scale histology cohorts.

Indexed as

Artificial IntelligenceGenome-Wide Association StudyQuantitative Trait LociSoftwareHumansPhenotypeColocalizationGenerative modelsGenome-wide association studiesHistologyKernel methodsSemantic autoencoderVariance component test

Identifiers

PMID41918129
PMCPMC13063728

What Socratic 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 Socratic graph.