NIH R01 · 2024
Optical Genome Mapping As a Novel Diagnostic Approach in Pediatric Brain Tumors
ABSTRACT One of the greatest advances in pediatric brain tumor management has been the incorporation of tumor molecular findings in the diagnosis, prognostic stratification, and treatment of patients. Because of this, treatment options and outcomes for patients with specific alterations, including structural variants (SVs) resulting in fusions, have greatly improved. However, despite multiple research studies that show SVs are important for tumor development, maintenance, and progression, clinical analyses are generally limited to targeted gene sequencing panels (DNA +/- RNA) and targeted fluorescent in situ hybridization (FISH). This type of testing is sufficient for brain tumors that…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.