This year’s European Society of Human Genetics (ESHG) Conference took place in Gothenburg, Sweden, and was a breakthrough for Bionano.
Dr. Alexander Hoischen, PhD, Associate Professor, Genomic Technologies & Immuno-genomicsat Radboud University Medical Center in the Netherlands, gave an update on their study comparing Bionano optical mapping with Saphyr to the current medical genetics workflows for leukemias and various genetic disorders. As part of a technical validation effort with the goal of implementing Bionano mapping in the clinical process in the near term, the Radboud team is running 100 leukemia genomes consisting of Chronic Myelogenous Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL) among other hematologic malignancies, and 50 samples with constitutional cytogenetic abnormalities on Saphyr. Of the 36 samples analyzed so far, Bionano detected ALL clinically reported variants with variant allele fraction larger than 10% in leukemia and identified ALL known aberrations in the constitutional cases. The clinically relevant variants detected by Bionano had previously been identified by a combination of three long-established clinical diagnostic methods, chromosomal microarray, karyotype, and FISH.
Watch his presentation above, and make sure not miss Laila El-Khattabi from Hôpital Cochin presenting “Using next generation mapping to detect balanced and unbalanced structural variants in reproductive and developmental diseases”, and Bionano’s Sven Bocklandt’s talk “New Developments in Long Read Optical Mapping Enable Novel Applications for Cancer and Genetic Disease”. All of the Bionano presentations at ESHG are discussed here.