Genetic & Genomic MedicineF1000ResearchPeer-reviewed
DAVE: how to use explainable AI to interpret missense variants for genome diagnostics based on functional protein modeling
Tim Niemeijer, René Mulder, Helga Westers…·K. Joeri van der Velde
DAVE uses explainable AI to interpret missense variants by integrating biophysically grounded features, improving variant classification and interpretability for genome diagnostics.
DOI 10.12688/f1000research.187527.1