Screen-VarCal: An Interpretable Probabilistic Framework for Recalibrating ACMG Rule-Based Variant Classification in Preventive Medicine
Divya Mishra, Alok Tiwari, Shivani Srivastava, Minal Tripathi, Anmol Kapoor
Screen-VarCal recalibrates ACMG variant classifications from InterVar to reduce false positives in preventive genomics using logistic regression and isotonic adjustment.
bioRxiv · Sep 23, 2025 · PreprintBioinformatics