Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Sek Won Kong, In‐Hee Lee, Lauren V. Collen, Michael Field, Arjun Kumar Manrai, Scott B. Snapper, Kenneth D. Mandl
The paper evaluates a deep learning model's performance in predicting pathogenicity of missense variants in a rare disease cohort and identifies limitations in its accuracy for intrinsically disordered regions.
npj Genomic Medicine · Feb 28, 2025Peer-reviewedGenetic & Genomic Medicine