Bionano Genomics announces publication on OGM’s structural variation detection

Bionano Genomics announced the results of an implementation study conducted by researchers at University Medical Center Groningen that compared optical genome mapping, OGM, to traditional cytogenetic methods for the detection of structural variants, SVs, in bone marrow aspirate, BMA, samples. OGM has been shown to regularly detect SVs missed by other methods, as a result of the higher resolution and sensitivity of OGM. Some of OGM’s novel findings, however, are difficult for other methods to validate, because of their resolution limitations. In this paper, researchers used OGM to detect variants in the BMA samples that were missed by traditional methods, and then applied targeted Cas9-directed Nanopore sequencing to validate the variants detected with OGM and define the breakpoints at the base pair level. The study results highlight OGM’s ability to provide researchers with a more comprehensive understanding of leukemia subtypes and the potential of targeted Cas9-directed Nanopore sequencing to validate new findings efficiently and at high resolution, compared to other genome analysis methods, including short read or other long read sequencing methods.