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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Nature Portfolio
2025-04-01
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| Series: | Scientific Data |
| Online Access: | https://doi.org/10.1038/s41597-025-04922-z |
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| author | Jie Song Mengqiao He Shumin Ren Bairong Shen |
| author_facet | Jie Song Mengqiao He Shumin Ren Bairong Shen |
| author_sort | Jie Song |
| collection | DOAJ |
| description | 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 explainable dataset collected from 509 research publications. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 records having disease labels. Each data record represents a patient group and includes demographic information, variation information, and phenotype information. Baseline and explainability validations conducted on FGDD confirmed the dataset’s effectiveness. FGDD supports the training of diagnostic models for rare genetic diseases while delivering explainable results, and provides a foundation for exploring intricate connections between genes, diseases, and facial phenotypes. |
| format | Article |
| id | doaj-art-f91c1ceeef9a495985c3fea34ebeacae |
| institution | OA Journals |
| issn | 2052-4463 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Data |
| spelling | doaj-art-f91c1ceeef9a495985c3fea34ebeacae2025-08-20T02:17:53ZengNature PortfolioScientific Data2052-44632025-04-0112111010.1038/s41597-025-04922-zAn explainable dataset linking facial phenotypes and genes to rare genetic diseasesJie Song0Mengqiao He1Shumin Ren2Bairong Shen3Department of Ophthalmology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan UniversityDepartment of Ophthalmology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan UniversityDepartment of Ophthalmology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan UniversityDepartment of Ophthalmology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan UniversityAbstract 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 explainable dataset collected from 509 research publications. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 records having disease labels. Each data record represents a patient group and includes demographic information, variation information, and phenotype information. Baseline and explainability validations conducted on FGDD confirmed the dataset’s effectiveness. FGDD supports the training of diagnostic models for rare genetic diseases while delivering explainable results, and provides a foundation for exploring intricate connections between genes, diseases, and facial phenotypes.https://doi.org/10.1038/s41597-025-04922-z |
| spellingShingle | Jie Song Mengqiao He Shumin Ren Bairong Shen An explainable dataset linking facial phenotypes and genes to rare genetic diseases Scientific Data |
| title | An explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| title_full | An explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| title_fullStr | An explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| title_full_unstemmed | An explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| title_short | An explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| title_sort | explainable dataset linking facial phenotypes and genes to rare genetic diseases |
| url | https://doi.org/10.1038/s41597-025-04922-z |
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