Largest Clinical Research Study to Date Evaluating Optical Genome Mapping for Analysis of Facioscapulohumeral Muscular Dystrophy Showed Concordance with Southern Blot and Reduced Turnaround Time by 50% as Compared to the Traditional Workflow
FSHD is typically caused by a contraction of a D4Z4 repeat array near the telomere of chromosome 4 (chr 4) at 4q35, which activates a dormant toxic gene, DUX4, to be overexpressed in skeletal muscle. Because of its complex genotype, FSHD can often be challenging to detect using next-generation sequencing (NGS) and Southern blot analysis, which can be slow, laborious and require radioactive labeling. In this robust study of 351 participants, the authors Stence et al., validated the use of OGM with Bionano’s Saphyr® system to determine the size and haplotype of D4Z4 alleles to confirm a diagnosis of FSHD. The study’s authors found that OGM had much higher sizing accuracy and was >99% concordant with Southern blot analysis.
“We are pleased to be using optical genome mapping for FSHD mutation analysis because it more reliably identifies the patient’s mutation and simplifies the initial analysis for the laboratory,” said
OGM is well-suited for analyzing inherited genetic disorders like FSHD that require the measurement of long, intact DNA molecules for accurate sizing. The higher resolution of OGM relative to traditional techniques can enable improved detection and discrimination ability for clinically relevant variants, as was observed in this study.
“The study completed by
This publication is available at https://pubmed.ncbi.nlm.nih.gov/34384893/
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Bionano is a genome analysis company providing tools and services based on its Saphyr® system to scientists and clinicians conducting genetic research and patient testing; it also provides diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its
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This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,” “estimate,” “intend” 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 impact of the study results discussed in this press release, including our expectations regarding the study’s potential to increase adoption of OGM for analysis of FSHD or other genetic disorders; OGM’s superiority in genomic analysis as compared to traditional techniques; the potential benefits resulting from a combination of OGM and NGS technologies; and the advancement of our business strategy. 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 products; incompatibility between our and NGS technologies; future study results that may contradict the results of the study identified 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; the loss of key members of management and our commercial team; 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