Bionano announces peer-reviewed publication on OGM and WES

Bionano Genomics announced a peer-reviewed publication from researchers at the German Cancer Consortium, or DKTK, showing the utility of optical genome mapping, or OGM, and whole-exome sequencing, or WES, in better understanding the mutational landscape of pediatric B-cell precursor acute lymphoblastic leukemia, or BCP-ALL. Researchers compared the analysis of 60 pediatric BCP-ALL samples using traditional cytogenetic methods against OGM and WES, finding that OGM and WES may provide novel insights into disease development and progression. Key takeaways include: OGM and WES identified 19 recurrently altered regions with novel potential leukemic drivers; OGM and WES identified double hits of structural variants, or SVs, and single-nucleotide variants, or SNVs, in the same sample, demonstrating the power of the combined approach of OGM and WES to identify compound events relevant to risk stratification and treatment of hematological malignancies; OGM identified 95% of SVs detected by karyotyping, or KT, fluorescence in situ hybridization and/or single nucleotide polymorphism array, including all hallmark translocations and chromosomal gains in hyperdiploid BCP-ALL.