BioNano Genomics (BNGO) Announces Publication of New Approach to Study DNA Replication Using Optical Genome Mapping With Saphyr, Potentially Supporting Development of Cancer Drugs Targeting Replicatio

April 22, 2021 8:09 AM EDT

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Bionano Genomics, Inc. (Nasdaq: BNGO), announced today the publication of a study that analyzed the mechanisms of DNA replication, a fundamental process of cell growth implicated in cancer that was previously hard to study in human genomes. The study, led by Dr. Nicholas Rhind from the University of Massachusetts Medical School with an international team of scientists from France, Canada and the USA, described a method combining optical genome mapping (OGM) with Bionano’s Saphyr® system with a labeling method developed by the scientists. The Saphyr-based method was capable of determining the timing, speed and origin of DNA replication in human cells at a coverage level that is thousands of times higher than what earlier methods such as nanopore sequencing allowed. The breakthrough quality and quantity of single molecule data generated by Saphyr in this study illustrates the importance of novel technologies such as OGM in driving a wave of big biology and innovation in genomics.

The body of humans and other organisms develop and grow when cells divide, and for each division the entire genome needs to be replicated. Mistakes in DNA replication can lead to genome instability and mutations that drive cancer. Because cancer cells divide excessively, many chemotherapeutic drugs target and disrupt DNA replication. A better understanding of these mechanisms could help develop new cancer drugs with reduced side effects.

The study of DNA replication in human cells has been difficult because existing technologies don’t allow for a thorough investigation of this extremely complex process in human cells. For that reason, replication studies using single molecule technologies such as nanopore sequencing have typically been limited to yeast cells because the sequencing throughput does not allow the genomewide analysis of human cells. The largest replication study to date analyzed no more than the equivalent of a single fiber for each part of the human genome. In this study, the optical replication mapping with Saphyr was able to collect more than 2,500 fibers for each part of the genome, or 27 million fibers total with an average length that’s 10 times larger than previous studies using long-read sequencing. The authors stated that the Saphyr-based method can become “a central technique for studying DNA replication, DNA repair and genome instability.”

Erik Holmlin, PhD, CEO of Bionano Genomics commented: “At Bionano we are focused on driving what we believe will be next wave of big biology and innovation in genomics by unlocking access to genome structure, structural variation, and functional information derived from high volume single molecule analysis. For all the transformative technology that’s available to researchers and clinicians today, none of them handles genomic structure, location and organization very well. This limitation leaves a gap in the basic understanding of genome function and the search for new medicines and diagnostic tests while other areas of genome analysis are being transformed by new technology. The optical replication mapping described here is a novel application of our technology that contributes to solving unique scientific questions, and illustrates one of the areas of growth for OGM that the research market provides. We are excited about the possibilities for improved insight in cancer biology and the potential discoveries of novel treatments for cancer that this application could enable.”

The publication is available at

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