Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.

Abstract excerpt

Classification of inheritance patterns is important for clinical characterization and genetic counseling in inherited retinal diseases (IRDs). In practice, inheritance assessment integrates pedigree information, clinical evaluation, and genetic testing. However, a definitive molecular diagnosis is not achievable in a subset of patients, even with contemporary sequencing approaches, and family history may be...

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