Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants
Iman Egab, Jacob Schmidt, Michael A. Cortázar, Jiaoyang Xu, Peter Orchard, Moez Dawood, Tugce Bozkurt‐Yozgatli, Jasmine Koh, Luisa Mestroni, M Taylor, S. Stephen Yi, Daniel G. Calame, Jennifer Ellen Posey, Richard A. Gibbs, Eric Boerwinkle, , 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.
bioRxiv · Oct 9, 2026 · PreprintGenomics