An explainable dataset linking facial phenotypes and genes to rare genetic diseases
Abstract Distinctive facial phenotypes serve as crucial diagnostic markers for many rare genetic diseases. Although AI-driven image recognition achieves high diagnostic accuracy, it often fails to explain its predictions. In this study, we present the Facial phenotype-Gene-Disease Dataset (FGDD), an...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Portfolio
2025-04-01
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| Serija: | Scientific Data |
| Online dostop: | https://doi.org/10.1038/s41597-025-04922-z |
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