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Bionano Announces Peer-Reviewed Publication on the Utility of Combining OGM and WES for Evaluation of Pediatric Leukemia
SAN DIEGO, Sept. 06, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication from researchers at the German
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[{"type":"text","content":"SAN DIEGO, Sept. 06, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication from researchers at the German Cancer Consortium (DKTK) showing the utility of optical genome mapping (OGM) and whole-exome sequencing (WES) in better understanding the mutational landscape of pediatric B-cell precursor acute lymphoblastic leukemia (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 OGM and WES identified 19 recurrently altered regions with novel potential leukemic driversOGM and WES identified double hits of structural variants (SVs) and single-nucleotide variants (SNVs) (ETV6, BTG1, STAG2, MANBA, TBL1XR1, NSD2) 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 malignanciesOGM identified 95% of SVs (526 out of 552) detected by karyotyping (KT), fluorescence in situ hybridization (FISH) and/or single nucleotide polymorphism (SNP) array, including all hallmark translocations and chromosomal gains in hyperdiploid (HD) BCP-ALLOGM identified 677 additional SVs of potential clinical relevance not identified by traditional methods, including SVs in known leukemia development genes and subclonal IKZF1 deletions missed by SNP-arrayOverall, OGM detected three times more deletions than were detected by a SNP-array at a 50kb detection limitOGM identified 3 novel fusion genes (SFMBT2::DGKD, PDS5B::STAG2, and TDRD5::LPCAT2)PacBio long-read sequencing was performed on 11 tumor samples where sufficient material was available to validate selected SVs that were newly detected by OGMThe combination of KT, FISH and SNP-array detected only 43% of SVs that OGM detected “This peer-reviewed publication from a leading German cancer consortium outlines the utility of OGM for detecting SVs that current methods identify and for revealing ones that current methods miss. It also shows the potential of combining OGM with WES to identify double hits, which are highly significant. It’s noteworthy that long-read sequencing confirmed the fusions detected by OGM once OGM revealed the regions in which to look f...