Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
Abstract There are over 7000 rare diseases, some affecting 3500 or fewer patients in the United States. Due to clinicians’ limited experience with such diseases and the heterogeneity of clinical presentations, ~70% of individuals seeking a diagnosis remain undiagnosed. Deep learning has demonstrated...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-06-01
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| Series: | npj Digital Medicine |
| Online Access: | https://doi.org/10.1038/s41746-025-01749-1 |
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