Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

• Tác giả: Lauren V Collen, Michael Field, Sek Won Kong, In-Hee Lee, Kenneth D Mandl, Arjun K Manrai, Scott B Snapper
• Ngôn ngữ: eng
• Thông tin xuất bản: England : NPJ genomic medicine , 2025
• Bộ sưu tập: NCBI
• ID: 734008

Tóm tắt

Genetic testing is essential for diagnosing and managing clinical conditions, particularly rare Mendelian diseases. Although efforts to identify rare phenotype-associated variants have focused on protein-truncating variants, interpreting missense variants remains challenging. Deep learning algorithms excel in various biomedical tasks