Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Abstract 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...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-02-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-025-00480-w |
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