Retinal dystrophies are genetic conditions associated with reduced or deteriorating vision that may lead to blindness. Current diagnosis technique:specialists test specific genes using gene-sequencing techniques for probable disease-causing variants. Diagnosis can be prohibitively expensive and requires specialists to interpret results. Therefore, many patients lack a conclusive molecular diagnosis critical to providing proper treatment, as many therapies are gene specific.
Our solution is a supervised model that predicts the likelihood of a particular disease-causing gene being mutated. This may help inform providers about appropriate genetic testing panels to order as well as assist ophthalmologists in analyzing inconclusive genetic testing results.