Article

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

2024-05-23

Abstract excerpt

Genetic testing has become an essential component in the diagnosis and management of a wide range of clinical conditions, from cancer to developmental disorders, especially in rare Mendelian diseases. Efforts to identify rare phenotype-associated variants have predominantly focused on protein-truncating variants, while the interpretation of missense variants presents a considerable challenge. Deep learning algorit...

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Literature Corpus work: 81a1b053-06a0-5c3a-a165-064fb76b620a
DOI: 10.1101/2024.05.22.24307756

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