Author

C. Kripke

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Open access Aug 2026

A Computational and Statistical Framework Leveraging AI-Derived CT Phenotypes for Causal Mediation Effects Between Genetic Variants and Disease

As the costs of genetic sequencing continue to drop and human genomic biobanks grow in scale, the challenge in genomics has shifted increasingly towards disentangling whether and how associated genetic variants cause disease. Clinical imaging in health-system-based biobanks provides quantitative physiological measures...

K. Keat, D.-Y. Zhang, L. Caruth et al. · medRxiv · 0 citations

Open access Aug 2026

Longitudinal Clinical Foundation Models Augmented with Genomics for Early Detection and Risk Stratification of Inherited Cardiomyopathy

Decomposing the onset prediction task reveals that the model often misclassifies patients who were diagnosed later as positive, suggesting the patient journey embeddings encode disease state more reliably than care timing.

A. Zolensky, Colleen M. Kripke, Karl Keat et al. · medRxiv · 0 citations

Open access Jul 2026

Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms

This study provides the most comprehensive assessment of IBS genetics to date, demonstrating reproducible polygenic inheritance and linking IBS risk to convergent neurogastrointestinal and novel cardiometabolic mechanisms, highlight specific biological pathways and actionable mechanisms and outline translational opport...

Biagio Di Lorenzo, L. Camargo Tavares, Cristian Díaz-Muñoz et al. · Gut · 0 citations