Jean‐Christophe Gelly

PATHOS predicts variant pathogenicity by integrating protein language models and biological features, achieving high accuracy on clinical and ClinVar datasets.

CONSTRUCT identifies functional or structurally important regions in protein tertiary structure by weighting substitution rates with neighboring sites' rates.

This study evaluates 65 variant effect predictors, finding AlphaMissense performs best and variants are classified as easy, moderate, or hard to predict based on structural and functional information.

This study shows that macrophages control collagen network topography via Tcf4-Collagen3 pathway, influencing immune cell infiltration in tumors.