Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome - researchr publication authors

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Carole Faviez, Marc Vincent, Nicolas Garcelon, Caroline Michot, Geneviève Baujat, Valerie Cormier-Daire, Sophie Saunier, Xiaoyi Chen, Anita Burgun. Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. In Brigitte Séroussi, Patrick Weber, Ferdinand Dhombres, Cyril Grouin, Jan-David Liebe, Sylvia Pelayo, Andrea Pinna 0001, Bastien Rance, Lucia Sacchi, Adrien Ugon, Arriel Benis, Parisis Gallos, editors, Challenges of Trustable AI and Added-Value on Health - Proceedings of MIE 2022, Medical Informatics Europe, Nice, France, May 27-30, 2022. Volume 294 of Studies in Health Technology and Informatics, pages 844-848, IOS Press, 2022. [doi]

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