Podrobná bibliografie
| Název: |
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene. |
| Autoři: |
Pontikos, Nikolas, Woof, William A., Lin, Siying, Ghoshal, Biraja, Mendes, Bernardo S., Veturi, Advaith, Nguyen, Quang, Javanmardi, Behnam, Georgiou, Michalis, Hustinx, Alexander, Ibarra-Arellano, Miguel A., Moghul, Ismail, Liu, Yichen, Pfau, Kristina, Pfau, Maximilian, Shah, Mital, Yu, Jing, Al-Khuzaei, Saoud, Wagner, Siegfried K., Daich Varela, Malena |
| Zdroj: |
Nature Machine Intelligence; Jun2025, Vol. 7 Issue 6, p967-978, 12p |
| Abstrakt: |
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be established sufficiently early. Critically, the timely identification of a genetic cause remains challenging. We demonstrate that a deep learning algorithm, Eye2Gene, trained on a large multimodal imaging dataset of individuals with IRDs (n = 2,451) and externally validated on data provided by five different clinical centres, provides better-than-expert-level top-five accuracy of 83.9% for supporting genetic diagnosis for the 63 most common genetic causes. We demonstrate that Eye2Gene's next-generation phenotyping can increase diagnostic yield by improving screening for IRDs, phenotype-driven variant prioritization and automatic similarity matching in phenotypic space to identify new genes. Eye2Gene is accessible online (app.eye2gene.com) for research purposes. Eye2Gene's next-generation phenotyping of multimodal images increases diagnostic yield for inherited retinal diseases by improving screening, phenotype-driven variant prioritization and automatic similarity matching in phenotypic space to drive gene discovery. [ABSTRACT FROM AUTHOR] |
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| Databáze: |
Biomedical Index |
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