Long Range Sequencing for the Detection of Fusion Genes A CRISPR-Cas9 enrichment Nanopore sequencing assay for long-read sequencing. Fusion genes occur in 30% of AML patients, resulting in distinct types of AML. Identification of these structural variants help in diagnostic classification and drive targeted therapies. Recognition of fusion variants is also important for detecting clonal heterogeneity and possibly clonal evolution. Available methods for clinical diagnosis have either low sensitivity, require long turnaround time, or the need to know the genes involved in the fusion. Dr. Cecilia Yeung’s team has developed a method that enables faster and comprehensive genomic profiling of AML mutations and fusion genes. Specifically, this method uses CRISPR guides to select and enrich genes involved in leukemia-specific fusion gene breakpoints, perform sequencing using nanopores, and a custom bioinformatic tools for fusion detection. This amplification-free, long-read DNA sequencing assay is able detect BCR-ABL1, PML-RARA, CBFB-MYH11, and KMT2A-AF4 fusion genes in patient specimens. <ul> <li>Genomic profiling of AML mutations and fusion genes</li> </ul> <ul> <li>Does not require previous knowledge of the target</li> <li>Open to discovery of novel/different fusion partners</li> <li>Rapid turnaround time (within 24 hours) when multiplexing different assays</li> </li> </ul> <ul> <li>Cecilia Yeung, M.D. - Associate Professor, Clinical Research Division</li> </ul> Assay validated using human samples PCT Application Filed 22120ceciliaAssay.pdf nCounter | Digiplex | ArcherDx | Oncomine Fusion | Oncoplex fusion | AML | Leukemia | Cecilia Yeung | Olga Sala-Torra | 22-120 | CRISPR | fusion genes | diagnostics cecilia-long-range-seq