Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
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| Title: | Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity. |
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| Authors: | Faviez, Carole1,2 (AUTHOR) carole.faviez@inserm.fr, Vincent, Marc3 (AUTHOR), Garcelon, Nicolas1,2,3 (AUTHOR), Boyer, Olivia4,5 (AUTHOR), Knebelmann, Bertrand6 (AUTHOR), Heidet, Laurence4 (AUTHOR), Saunier, Sophie5 (AUTHOR), Chen, Xiaoyi1,2,3 (AUTHOR), Burgun, Anita1,2,7 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 2/10/2024, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-024-03063-7 |
