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Article

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

Genome biology - 31 Mar 2026

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

Abstract excerpt

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...

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PMID: 41918129
DOI: 10.1186/s13059-026-04031-z
PMCID: PMC13063728

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