PhenoDP: leveraging deep learning for phenotype-based case reporting, disease ranking, and symptom recommendation.

Abstract excerpt

BACKGROUND: Current phenotype-based diagnostic tools often struggle with accurate disease prioritization due to incomplete phenotypic data and the complexity of rare disease presentations. Additionally, they lack the ability to generate patient-centered clinical insights or recommend further symptoms for differential diagnosis. METHODS: We developed PhenoDP, a deep learning-based toolkit with three modules:...

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