Benzinga | Sep 16, 2021 08:21AM EDT

Bionano Genomics Announces Study Finds The Combination Of Optical Genome Mapping And Short-Read Sequencing Provides A Comprehensive Genome Analysis For Lung Cancer Samples And Enables The Discovery Of New Biomarkers

Bionano Genomics, Inc. (NASDAQ:BNGO) today announced a study finding the combination of optical genome mapping (OGM) and short-read next-generation sequencing (NGS) provides a comprehensive genome analysis for lung cancer samples and enables the discovery of new biomarkers. This study, appearing in the September 7th peer-reviewed issue of Cell Reports describes how the combination of OGM and NGS aids in the detection of structural variants (SVs) in non-small cell lung carcinoma (NSCLC), the most common form of lung cancer.



Non-small cell lung carcinoma (NSCLC) is the leading cause of cancer-related death worldwide. Genomic structural variations (SVs), including large indels, inversions, duplications, and translocations, are essential causes of alterations in gene expression and are recognized as hallmarks in tumorigenesis. In this study, recurrently SV-disrupted genes were significantly enriched in cancer-related pathways highlighting the importance of OGM for detecting all classes of SVs. This study utilized short-read NGS and Bionano's OGM toobtain high-technical-confidence somatic SVs to investigate candidate oncogenes in cancer patients. An essential role of high-technical-confidence somatic SVs guided the identification of two new oncogenes (TRIO and SESTD1) in NSCLC.

The authors of this study, Xia et al., claim that NGS and OGM are complementary techniques in oncogene discovery and translational research applications since all somatic variants from 1bp and above can be identified. In addition, the identification of SVs via NGS alone remains challenging because of the nature of the short reads generated by this method. The authors expect to be able to identify more high-technical-confidence SVs and determine more candidate oncogenes of NSCLC or other tumors by using this approach of combining NGS and OGM. The utilization of these two techniques would make them able to more comprehensively quantify the contribution of somatic SVs in cancer as compared to short-read NGS alone.

In addition, the authors confirmed that deletions and inversions have bidirectional influences on gene expression. The analysis by Xia et al., suggests that this bidirectional influence might be the result of independent effects of SVs and open peaks on gene expression. This finding reinforces the importance in being able to accurately detect inversions, which are difficult to detect with NGS but a strength of Bionano's OGM technique on the Saphyr(r) system.

"We believe the combination of NGS and OGM is currently the most comprehensive and cost-effective analysis of the cancer genome," commented Erik Holmlin, PhD, CEO of Bionano Genomics. "This study demonstrates the benefits of combining NGS and OGM data for discovery and translational research in cancer, with the ability to detect from 1bp to >1kb for measuring all classes of structural variants in an integrated approach. We believe this trend will continue across all clinical research applications where the combination of NGS and OGM can provide greater insights for elevating human health and wellness."

This publication is available at https://www.sciencedirect.com/science/article/pii/S2211124721011049