Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
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…·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.
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