Author

L. Guare

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Review Open access Aug 2026

TRACE: A FINE-TUNED BIOMEDICAL LANGUAGE MODEL FOR DIRECTIONALLY INFORMED DRUG REPURPOSING FROM TRANSCRIPTOME-WIDE ASSOCIATION STUDIES

TRACE (TWAS-driven Repurposing through AI-assisted Curation of Evidence), a gene- and phenotype-agnostic computational pipeline that accepts a TWAS gene and effect-size direction, and uses a fine-tuned biomedical language model to classify whether the literature supports a direct drug-gene relationship, the mechanism o...

C. O. Otieno, H. Seagle, A. T. Akerele et al. · medRxiv · 0 citations

Open access Aug 2026

Multi-ancestry sequencing analysis in 293,141 participants identifies predisposition DNA repair genes associated with HCC risk.

Rare variants in MSH6 and BRCA2 are significantly associated with increased HCC risk, revealing a previously unconfirmed role for DNA repair genes in HCC susceptibility across ancestrally diverse populations and may inform genetic risk stratification and surveillance strategies.

A. Garófalo, Perapa Chotiprasidhi, Josephine P. Johnson et al. · JHEP Reports · 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