A structure and function-based complete mutational map of Human Hemoglobin using AI
Franco Salvatore, Franco G. Brunello, Claudio David Schuster, Marcelo A. Marti
The paper develops a pathogenicity prediction model for hemoglobin variants using structure-informed features and ML, showing strong performance compared to AlphaMissense and providing a complete mutational landscape for HbA.
Frontiers in Chemistry · Aug 13, 2026Peer-reviewedBioinformatics