Next-generation Cytogenetics: Comprehensive Assessment of 52 Leukemia Genomes by Optical Genome Mapping

Dr. Tuomo Mantere, University of Oulu, Finland and Radboud University Medical Center, the Netherlands presented an update on published work evaluating OGM for the analysis of 52 patient samples with a variety of forms of leukemia. Saphyr showed 100% concordance with previous findings from the 3 standard cytogenetic methods of karyotyping, fluorescent in-situ hybridization (FISH) and chromosomal microarray (CMA) combined for simple cases. In complex cases it finds more complexity than standard methods could, and more closely represents the actual structure of the cancer genome than current methods.