Article

Deep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset

2025-12-02

Abstract excerpt

<title>Abstract</title> <p>Accurate classification of inheritance patterns is an integral part of diagnosis and genetic counseling for inherited retinal diseases (IRDs). Traditionally reliant on pedigree analysis, clinical phenotyping, and genetic testing, this process is often constrained by incomplete family history, ambiguous presentations, limited access to genetic testing, and inconclusive genetic test resul...

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Literature Corpus work: 9e835201-74e7-55d1-b087-f1dfdf4e7dd7
DOI: 10.21203/rs.3.rs-8002154/v1

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