Bionano replaces traditional cytogenetics

A team led by Dr. Alex Hoischen from Radboud University Medical Center (RUMC) in the Netherlands reported the results of a successful validation study comparing the performance of Bionano’s Saphyr to traditional cytogenetic methods for the clinical analysis of 48 leukemia genomes, with a combination of myeloid and lymphoid leukemias. Saphyr was 100% concordant with the standard of care for the detection of somatic chromosomal abnormalities. All previously reported aberrations were identified, and in the complex cases, Bionano allowed for a better resolution and a more complete picture of complex aberrations. A complex chromothripsis structure was resolved unambiguously and in other cases, additional fusions were identified, or marker chromosomes of unknown origin were resolved. Generally, Bionano results were more complete than all three individual previous tests and most likely delivered the true underlying genomic architecture.