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Inherited Retinal Disease Study Reveals Structural Variant Impacts on Risk Genes

For a paper in Genetics in Medicine, a team from Radboud University Medical Center, the Technion-Israel Institute of Technology, Trinity College Dublin, and elsewhere present findings from a structural variant (SV) analysis of inherited retinal diseases (IRDs). After identifying an inversion variant affecting the IRD-related gene USH2A, the researchers re-analyzed existing short-read sequence-based genomes for 427 IRD cases with or without a prior genetic explanation, bringing in optical genome mapping insight to help find suspicious SVs. The search pointed to 30 pathogenic SVs, they report, including several IRD-related variants not found in the initial genome analyses. Half of the pathogenic SVs fell in the USH2A gene, though several other IRD-related genes were impacted in smaller groups of patients. "This study highlights that SVs are an underestimated cause of IRDs and demand a sophisticated approach and more attention to facilitate detection during genome analyses," the authors note.