Bionano Announces Peer-Reviewed Publication on the Utility of Combining OGM and WES for Evaluation of Pediatric Leukemia
- OGM and WES identified 19 recurrently altered regions with novel potential leukemic drivers
- OGM 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 malignancies
- OGM 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-ALL
- OGM 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-array
- Overall, OGM detected three times more deletions than were detected by a SNP-array at a 50kb detection limit
- OGM 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 OGM
- The 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 for them, highlighting the possibility that OGM can be a primary tool used alongside short-read next-generation sequencing (NGS). Altogether, the findings may result in meaningful revisions to various risk classifications and disease stratifications, which are known to affect outcomes,” commented
The publication can be viewed here: https://journals.lww.com/hemasphere/fulltext/2023/08000/optical_genome_mapping_identifies_novel_recurrent.4.aspx
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. The Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. The Company additionally offers nucleic acid extraction and purification solutions using proprietary isotachophoresis technology. For more information, visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com.
Unless specifically noted otherwise, Bionano’s OGM products are for research use only and not for use in diagnostic procedures.
Forward-Looking Statements of Bionano
This press release contains forward-looking statements contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “can,” “may,” “potential,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances and the negatives thereof) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the ability of OGM and WES to provide novel insights into disease development and progression; the performance of OGM compared to traditional cytogenetic methods including KT, FISH, and SNP-arrays for the identification of SVs; the ability and utility of OGM to detect SVs in BCP-ALL samples; the potential of combining OGM with WES to identify double hits; the ability and utility of combining OGM with WES for the analysis of BCP-ALL samples; the ability and utility of OGM to be adopted as an analysis method for BCP-ALL samples; the possibility that OGM can be a primary tool used alongside NGS; whether the findings discussed in this press release will result in meaningful revisions to various risk classifications and disease stratifications; and other statements that are not historical facts.
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Source: Bionano Genomics