Bionano Genomics announces publication on utility of OGM

Bionano Genomics announced the publication of a study from researchers at Radboud University Medical Center showing the use of optical genome mapping to identify gene disruptive structural variants that might contribute to inherited retinal diseases. OGM detected a large inversion impacting the USH2A gene that was initially ignored as a false positive in short-read next-generation sequencing data. The authors sought to determine whether OGM could improve SV detection in genetically unexplained IRD cases. Their results identified several pathogenic SVs had been overlooked in their initial genome analyses by NGS. The publication illustrates the potential impact of combining NGS and OGM for more comprehensive variant analysis. Inherited retinal diseases are a clinically and genetically heterogeneous group of disorders that can cause severe vision loss or even blindness and are often degenerative. Genetic research in this area may help to improve the accuracy of diagnosis, prognostication, and treatment prospects of targeted therapeutics. Approximately 30% of individuals suspected of IRD lack a conclusive genetic diagnosis after genome sequencing has been performed. Study authors used OGM to search for pathogenic SVs in an IRD sample and resolved a subject that had been genetically unexplained for decades. Researchers used OGM to analyze Usher syndrome type-II, a recessively inherited disorder characterized by retinitis pigmentosa and congenital hearing loss and associated with variants in several genes, an important one being USH2A OGM detected a 173 megabase USH2A-disruptive pericentric inversion on chromosome 1 that had been overlooked and misinterpreted during previous analysis by NGS. The finding by OGM provided a genetic explanation for this subject after decades of research. Reanalysis of NGS data for 427 IRD cases subsequently yielded 30 likely pathogenic SVs in 29 IRD probands. Notably, 8 of the identified pathogenic variants were overlooked during the initial analysis.