Bionano Genomics announces publication showing OGM detects over 1250 variants

Bionano Genomics announced the publication of a study from Penn State College of Medicine that used optical genome mapping, OGM, to search for clinically and biologically relevant genomic variations in pediatric B-cell acute lymphoblastic leukemia. The study also used whole genome sequencing for variant detection and evaluated the two approaches side-by-side and the potential benefit of integrating WGS and OGM to obtain a comprehensive analysis of genetic variation. The study concluded that OGM together with WGS can potentially identify new therapeutic targets and improve personalized medicine in pediatric leukemia and other cancers by providing a more complete view of genome variation, including structural variation. The study findings showed that, of the 3,075 total SVs detected in the B-ALL samples, 1,255 were uniquely detected by OGM. The study also found that WGS detected 66 gene fusions, and that OGM was able to detect an additional 56 fusions that were missed by WGS. Several of the gene fusions detected by OGM were also not previously found by other methods of analysis, and their expression was confirmed by RNA sequencing, indicating their potential to be used as prognostic biomarkers or possible therapeutic targets. These study findings highlight the potential benefit of using OGM for SV detection in B-ALL, as many SVs went undetected with WGS alone.