Metastatic Lung Cancer Study Finds That Bionano’s Saphyr Outperforms NGS for the Detection of Structural Variants

SAN DIEGO, Aug. 03, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced the publication of the first study to utilize its genome imaging system, Saphyr, for the analysis of structural variants (SVs) in lung cancer and metastases. The study, published in Translational Lung Cancer Research by a team of scientists from Fudan University Shanghai Cancer Center and Shanghai Medical College, analyzed SVs using both short-read next-generation sequencing technology (NGS) and Bionano’s Saphyr system on a primary lung squamous cell carcinoma sample, and on matched metastases from lymph node and pulmonary vein. The study showed that Saphyr outperformed NGS-based methods in the detection of structural variants to characterize the genetic heterogeneity between the primary tumor and the matched metastases.

Of 1026 large SVs detected on average by Saphyr in each of the tumor types, the NGS-based methods failed to detect an average of 77%. Saphyr identified 52 SVs shared between the metastases, while no shared SVs were found by NGS-based methods.

The study authors stated that Saphyr is more capable of detecting large and complex SVs, without the computational and bioinformatic challenges that come with SV calling from NGS data. They found that like with point mutations and small insertions/deletions detected with NGS, SVs make up a large part of tumor heterogeneity. The authors describe that the combination of NGS and Saphyr allowed for a more comprehensive understanding of the variation between primary tumor and metastases, with Saphyr making up for the inability of NGS to detect large SVs.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented: “Researchers are increasingly becoming aware of the importance of genome-wide and unbiased detection of structural variants in cancer and of the severe limitations of NGS-based methods to do so. We are pleased to see this publication showing that Saphyr provided a comprehensive view of structural variants in lung cancer, the most commonly occurring cancer worldwide.  Unlike short-read sequencing protocols which start with fragmenting the genomic DNA of the tumor, Bionano’s genome imaging analyzes long, intact DNA molecules that are hundreds of thousands to millions of basepairs long, which enables Saphyr to detect structural variants that couldn’t be identified before. We believe this study and the growing body of publications on Bionano data show that Saphyr is indispensable for personalized medicine and for furthering the understanding of tumorigenesis and cancer progression.”