Jose Antonio Vilar Sanchez

Thermodynamic Profiling for Synonymous Variant Classification: When the Message Changes Without Changing the Protein

In synonymous variants, the signal of pathogenicity is detectable as a local, signed thermodynamic perturbation of nearest-neighbor nucleotide stacking — orthogonal to protein-level predictors — that a two-feature interpretable model reproduces at the level of a dedicated deep classifier, and whose clarity increases wi...