Structural Variant Insights from Adult and Pediatric CNS Tumors: Powered by Optical Genome Mapping

According to ASCO’s “Cancer.Net” website, CNS tumors account for >300,000 overall cancer diagnoses worldwide and are estimated to be the second most common type of childhood cancers. When it comes to investigating the molecular bases of CNS tumors, and in particular the role of structural variants (SV), multiple technologies have been used over the past decades. However, the underlying genetic alteration remains unresolved for many samples. Therefore, there is a clear need for the application of new technologies.  In this enlightening symposium, three presenters unveil groundbreaking data from their clinical research on SVs in CNS tumors. The data was generated using Optical Genome Mapping (OGM), a method known for its comprehensive, high-resolution, and unbiased detection of SVs across the genome. As part of this session, a comparison of OGM performance to classical methods, such as microarrays, will also be presented.