Optical Genome Mapping for the discover of novel structural variants in pediatric brain tumors

In our preliminary studies, we have been able to identify a large number of clinically significant SVs in tumor samples obtained from the Children’s National brain tumor biobank. However, these samples to not have WGS and RNA-sequencing data available for comparison. The CBTN samples are critical for our project, as they will allow for a comprehensive analysis of SV data generated by OGM along with WGS and RNA-sequencing data. This will also allow us to expand our current data cohort from 70 to 100, which would be sufficient for a study showing utility of the platform for SV detection. This data generated from this proposal will also be used as crucial preliminary data for a larger R01 application, that would allow for mapping of a large spectrum of pediatric brain tumor samples. All data generated from this project will be shared with CBTN so other researchers can benefit from this.