Saphyr Study Is First to Analyze Cancer Regulation at Level of Single DNA Molecules, Opens Promising New Avenue of Cancer Research

Publication on novel Saphyr based method to analyze DNA methylation in cancer genomes enables new field of cancer research and drug target discovery

SAN DIEGO, Feb. 02, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), announced today the publication of a study that measured DNA methylation, the chemical modification of the DNA that controls gene regulation, of the various regions regulating cancer genes on single DNA molecules. The study led by Dr. Yuval Ebenstein at the Tel Aviv University found that optical genome mapping (OGM) with Bionano’s Saphyr system combined with a custom labeling method developed by the scientists was capable of analyzing regulatory regions that work together to turn cancer genes on and off over distances of hundreds of thousands of basepairs. The ability to measure these relationships on single DNA molecules is something that was previously impossible. Only Saphyr can detect these long-distance connections in methylation profiles because it’s the only technology that can generate such long-range, single molecule data at high throughput and coverage.

While most of the important information in our genome is encoded in the sequence and the structural organization of the sequence, the regulation of genes is partially registered through chemical labels attached to the DNA. These chemical labels, called DNA methylation, can turn genes on and off at specific time points and in certain tissues. A normal cell can only become cancerous and grow excessively by making multiple changes to the genome and the way it is regulated. These changes include single nucleotide variations, structural variations and changes to DNA methylation patterns that can happen to the actual cancer gene, to the promoter region that switches the gene on and off, or to enhancer regions that can be hundreds of thousands of basepairs removed from the cancer gene. Studying these methylation patterns has been difficult or impossible because current methods only allow you to measure values averaged over dozens or hundreds of cells. To fully understand how cancer genes are turned on and off, it is important to measure the methylation status of a gene, its promoter, and its enhancers on individual, single molecules, which is impossible with short-read or long-read sequencing because their read lengths are insufficient.