Abstract:Purpose: Inherited retinal diseases (IRDs) are single‐gene disorders caused by genetic mutations in any one of over 270 genes. Identifying the causative gene through genetic testing is crucial for gene targeted treatments, recruitment to clinical trials, prognosis and family planning. The prescription and interpretation of genetic results requires phenotype–genotype recognition that only IRD experts can provide hence this has motivated AI approaches that are able to predict the probable IRD causative gene from… Show more
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