Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants
Iman Egab, Jacob Schmidt, Michael A. Cortázar…·Zeynep Coban‐Akdemir
The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.