Marielle E van Gijn

DAVE uses explainable AI to interpret missense variants by integrating biophysically grounded features, improving variant classification and interpretability for genome diagnostics.

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

CAPICE is a machine learning method that prioritizes pathogenic variants in exomes, outperforming existing tools for rare and ultra-rare variants.