Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Abstract Despite advanced diagnostic tools, early detection of rare genetic conditions like Noonan syndrome (NS) remains challenging. We evaluated a deep learning model’s real-world performance in identifying potential NS cases using electronic health record (EHR) data, validated through genetic seq...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-07-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-025-00512-5 |
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