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

Abstract 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...

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Bibliographic Details
Main Authors: Baole Wen, Sheng Shi, Yi Long, Yanan Dang, Weidong Tian
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Genome Medicine
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Online Access:https://doi.org/10.1186/s13073-025-01496-8
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