Benzinga | Sep 7, 2021 08:15AM EDT

Bionano Genomics Announces NuProbe Global Has Adopted Bionano's Saphyr System To Develop Products In Reproductive Health And Oncology Applications

Bionano Genomics, Inc. (NASDAQ:BNGO) announced today that NuProbe Global, a global molecular diagnostics company based in Shanghai, China and Houston, Texas, has adopted Bionano's Saphyr system for optical genome mapping (OGM) to integrate their Quantitative Amplicon Sequencing (QASeq) and Blocker Displacement Amplification (BDA) technologies for research and product development in the fields of reproductive health and oncology liquid biopsies.

"The Bionano OGM system provides direct and unambiguous identification and characterization of large-scale DNA structural variants without complex bioinformatics. NuProbe's BDA technology helps zoom in on low frequency variants with single-base resolution. We believe this combination can provide genomics and clinical researchers with the gamut of DNA variant information from large to small," said Dr. George Church, Professor of Genetics at Harvard Medical School and a member of NuProbe's Scientific Advisory Board.

Bionano's Saphyr system uses OGM, which relies on single molecule detection, to identify all classes of structural variants. OGM is used by researchers and clinicians to identify structural variants associated with genetic diseases and cancer to potentially develop therapies and novel diagnostics. Compared with traditional methods such as karyotyping, fluorescent in-situ hybridization (FISH) and microarrays, OGM has the advantages of higher resolution, whole-genome coverage, user-friendly workflow, intuitive result presentation, and can accurately detect balanced translocations, inversions, repeat expansions and contractions which are difficult to detect using other methods. We believe no other platform can more cost-effectively detect all these classes of structural variants than OGM.

"Bionano's single-molecule OGM system can detect structural variants and provide breakpoint information of DNA fusions at a resolution of 5kb," commented David Yu Zhang, PhD, Head of Innovation at NuProbe USA. "When combining it with NuProbe's QASeq technology, we can obtain accurate DNA breakpoint location information, thus facilitating the research in gene fusion."

QASeq is an innovative amplicon sequencing technology that uses unique molecular identifiers (UMIs) and multiplexed library construction technology to achieve accurate detection and quantitation of mutations and copy number variations in FFPE tissue, fresh or frozen tissue or cfDNA samples from blood. QASeq has high conversion yield and sensitivity. When coupled with NuProbe's proprietary bioinformatics, it enables rapid development of custom NGS products with higher limit of detection in CNV detection of tumor cells than traditional methods such as FISH.

BDA is a novel PCR-based mutation enrichment technology that can effectively reduce wild-type amplification efficiency and enlarge low-frequency mutation signals through innovative thermodynamic design in PCR amplification cycle. BDA enables detecting SNVs with variant allele frequency (VAF) as low as 0.01%. BDA can be widely applied to various molecular diagnostic platforms including PCR, first-generation capillary sequencing, second-generation high-throughput sequencing, third-generation single-molecule sequencing, and nucleic acid mass spectrometry.

"Currently, in both reproductive health and oncology, some variants cannot be detected by NGS, such as structural variants >1kb, and some gene fusions are under-detected," said Yingshuang Chai, CEO of NuProbe. "Bionano's Saphyr system is a transformative cytogenetic technology that we have evaluated as a powerful complement to existing NGS technologies. Combined with our QASeq and BDA technologies, it can effectively help clinicians to identify the location and causes of disease."

"Saphyr is the leading platform capable of detecting structural variants present at low fraction in complex cancer samples," commented Erik Holmlin, PhD, CEO of Bionano Genomics. "NuProbe's technology allows for the detection of low-abundance point mutations. Combined, they can provide researchers and clinicians with a more complete picture of the mutational burden of a tumor sample than any single technology can by itself. We are excited to see how this combination of our technologies' strengths can allow NuProbe to develop a potentially superior product for genome analysis in reproductive health and oncology."