Day Three of Bionano’s Next-Generation Cytogenomics Symposium Saphyr Provides Complete Structural Variation Analysis in Solid Tumors, Enables Discovery of Novel Diagnostic Markers and Drug Targets
Preliminary readout on Saphyr validation study for brain cancer presents path to solid tumor LDT
- Saphyr outperforms Oncoscan array for structural variation and copy number variation detection in solid tumors
- Saphyr provides comprehensive and clear picture of structural variation in solid tumors, which has not been possible to date with NGS or array
- Saphyr offers large opportunity for discovery of new therapeutic targets and prognostic markers in cancer
SAN DIEGO, Jan. 14, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that day three of its five-day Next-Generation Cytogenomics Symposium featured six Saphyr users presenting their results and experiences using the Saphyr system for optical genome mapping (OGM) to analyze solid tumor genomes. The presentations by scientists and clinicians from leading hospitals and medical research institutions in Europe and the US discussed results on a variety of solid tumors such as cancers of the head and neck, brain, breast, liver, and the eye. All six studies showed that Saphyr enables for the first time a complete and clear picture of structural variation in the genome and provides opportunity for the discovery of novel cancer drivers, therapeutic targets, and prognostic markers, something which has not been possible to date with next-generation sequencing (NGS) and array platforms.
Dr. Jim Broach, Director of the Penn State Institute for Personalized Medicine presented on HPV-induced head and neck cancer, one of the few cancers on the rise in the US while most other cancers continue to decline. OGM allowed his team to reconstruct complicated genomic changes that next-generation sequencing hasn’t been able to identify. He concluded that Saphyr is a powerful tool to identify and characterize viral integration in tumors and that it can detect the genome instability associated with HPV integration.
Dr. Adrian Lee, Director of the Institute for Precision Medicine at the University of Pittsburgh presented on his use of OGM to study invasive lobular breast cancer, the sixth most common cancer in women. Using Saphyr, he was able to reconstruct extremely complex chromosome-wide rearrangements as well as clinically important single gene deletions. He stated that cancer genomics has long focused on small point mutations simply because the structural variants (SVs) were not accessible with next-generation sequencing tools, and he believes that OGM will allow for the discovery of therapeutic targets and diagnostic markers from SV data. He concluded that large structural variants are common in breast cancer and have important clinical value, that Saphyr can detect copy number changes as well as the standard single nucleotide polymorphism (SNP) arrays and that additionally it can detect all other SV types genome-wide as well.