Bionano Genomics Announces Publication of a New Study Using OGM to Investigate Inversions that May Lead to Genetic Disorders
This study, published in the journal Cell, analyzed inversions using various methods, including OGM. The study reported that 80% of the larger inversions that were detected were balanced and affected twice as many nucleotides overall as copy number variations (CNVs). The researchers noted that these inversions can be associated with rare genomic rearrangements found in pediatric autism, developmental delay, and epilepsy.
In the study, researchers analyzed 41 unrelated human samples representing 729 inversion sites for recurrent inversion formation using complementary genomic approaches, including single-cell template strand sequencing (Strand-seq), long-read sequencing, and OGM. Using this multi-platform method, researchers found 40 recurrent inversions that encompassed 0.6% of the genome, showing that recurrent inversions can be co-localized with genomic disorder regions.
This publication is available at: https://pubmed.ncbi.nlm.nih.gov/35525246/
Forward-Looking Statements of
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “can,” “potential,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) 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 and utility of OGM and Saphyr® system to detect and analyze large inversions, the potential for OGM to become part of routine large inversion detection and analysis, and the correlation of large inversions with genetic disorders. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; failure of future study results to support those demonstrated in the paper referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the
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Source: Bionano Genomics