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Digenic variant interpretation with hypothesis-driven explainable AI.

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第一作者： Federica,De Paoli

第一单位： enGenome Srl, Via Ferrata 5, 27100, Pavia, Italy.

作者： Federica,De Paoli ^[1] ; Giovanna,Nicora ^[1] ; Silvia,Berardelli ^[2] ; Andrea,Gazzo ^[3] ; Riccardo,Bellazzi ^[2] ; Paolo,Magni ^[2] ; Ettore,Rizzo ^[1] ; Ivan,Limongelli ^[1] ; Susanna,Zucca ^[1]

作者单位： enGenome Srl, Via Ferrata 5, 27100, Pavia, Italy. ^[1] enGenome Srl, Via Ferrata 5, 27100, Pavia, Italy.;Department of Electrical, Computer and Biomedical Engineering, University of Pavia, 27100, Pavia, Italy. ^[2] Department of Pathology, Memorial Sloan Kettering Cancer Center, 10065, New York, NY, United States. ^[3]

医学主题词人类(Humans);人工智能(Artificial Intelligence);遗传变异(Genetic Variation);表型(Phenotype);少见病(Rare Diseases)

DOI 10.1093/nargab/lqaf029

PMID 40160220

发布时间 2025-07-21

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Digenic variant interpretation with hypothesis-driven explainable AI.

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Digenic variant interpretation with hypothesis-driven explainable AI.

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