Cost‐effective smMIPs‐based sequencing to provide a genetic diagnosis for patients with retinitis pigmentosa, Leber congenital amaurosis and macular diseases

Abstract

Obtaining a genetic diagnosis for IRDs is challenging as more than 280 genes are associated with these conditions. Next‐generation sequencing approaches such as whole exome and genome sequencing are often used but their costs and required infrastructure still prohibit global applicability. Previous studies have shown the cost‐effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Recently, we have developed two smMIPs based panels, one panel to target all genes known to cause retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), and one panel to target all genes associated with macular diseases (MD). The RP‐LCA and MD panels were used to sequence 4381 and 1352 genetically unsolved probands, respectively. During this lecture, we will discuss the results and effectiveness of our smMIPs based sequencing efforts and highlight some of the novel genotype–phenotype correlations that were identified using these large cohorts.