Bionano Genomics, Inc., announced significant upgrades to its pipeline for analysis of optical genome mapping data in its VIA™ software for applications in constitutional genetic disease.
SAN DIEGO, Dec. 28, 2023 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO), today announced significant upgrades to its pipeline for analysis of optical genome mapping (OGM) data in its VIA™ software for applications in constitutional genetic disease. The latest analysis pipeline, Bionano Solve 3.8.1, enhances the sensitivity and specificity for structural variation (SV) detection from OGM data, which, when combined with copy number variant (CNV) analysis capabilities introduced in July 2023, further advance OGM’s leadership in variant detection. Together with the enhanced performance for SV and CNV calling, VIA software now enables the most comprehensive visualization, interpretation and reporting of SVs and CNVs from OGM data in constitutional genetic disease research.
Features of the VIA software that apply to constitutional genetic disease research include:
- Automatedanalysis and interpretation
- Calculationof CNV pathogenicity scores according to the American College of Medical Genetics (ACMG) 2019 guidelines for CNV interpretation and reporting
- Inheritance analysis of proband and parental samples
- Comparison of variant calls to databases including internal databases, OMIM, ClinGen and the Database of Genomic Variants (DGV) for pre-classification of variants
- Phenotype-based variant prioritization & filtering using the Human Phenotype Ontology (HPO) database to score significance of associated phenotype to detected variants and create panels of likely genetic drivers
- Custom Reporting
- Researchers can construct a report template with desired sample and variant information that is relevant for a particular study
- Reports can then be automatically populated for each sample during the course of a research study
- Knowledge Base
- VIA software contains a knowledge base, which consists of a vault of previously curated variant interpretations
- New samples can be automatically compared to previous interpretations in the knowledge base to find similar examples and expedite the analysis and interpretation time
- Integration of Additional Data Types
- VIA software enables the integration of multiple data types, including chromosomal microarray analysis (CMA) and next-generation sequencing (NGS), which can be visualized, interpreted and reported alongside OGM
“These steps forward for VIA software and the Solve pipeline are significant advancements for any researcher working with OGM data, but they are particularly important for those doing constitutional genetic research. Our VIA release in July 2023 addressed the needs of researchers studying hematological malignancies. The progress announced today helps the constitutional genetic disease research community go beyond the capabilities of Bionano Access™ software in a way that significantly improves their ability to visualize, interpret and report results in a streamlined process that runs faster than ever. We believe these improvements will empower researchers to tackle even larger and more complex projects resulting in more and more use of OGM data,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.
About Bionano
Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. The Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. The Company additionally offers nucleic acid extraction and purification solutions using proprietary isotachophoresis technology. For more information, visit www.bionano.com, www.bionanolaboratories.com or www.purigenbio.com.
Unless specifically noted otherwise, Bionano’s OGM products are for research use only and not for use in diagnostic procedures.
Forward-Looking Statements of Bionano
This press release contains forward-looking statements contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “believe,” “can,” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances and the negatives thereof) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the ability and utility of OGM to detect SVs relevant to constitutional genetic disease research; the ability and utility of the VIA software in the analysis of SV and CNV OGM data; the ability and utility of the VIA software in the analysis of OGM data in conjunction with CMA and NGS data; the ability and utility of the VIA software to automate the analysis and interpretation of OGM data in connection with the guidelines and databases referenced in this press release; and other statements that are not historical facts. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of geopolitical and macroeconomic developments, such as recent and future bank failures, the ongoing Ukraine-Russia conflict, related sanctions, the Israel-Hamas war, and any global pandemics, on our business and the global economy; challenges inherent in developing, manufacturing and commercializing products; our ability to further deploy new products and applications and expand the markets for our technology platforms; failure of OGM to detect SVs relevant to constitutional genetic disease research; failure of the VIA software in the analysis of SV and CNV OGM data; failure of the VIA software in the analysis of OGM data in conjunction with CMA and NGS data; failure of the VIA software to automate the analysis and interpretation of OGM data in connection with the guidelines and databases referenced in this press release; our expectations and beliefs regarding future growth of the business and the markets in which we operate; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts and our ability to continue as a “going concern”; and including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2022 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management’s assumptions and estimates as of such date. We are under no duty to update any of these forward-looking statements after the date they are made to conform these statements to actual results or revised expectations, except as required by law. You should, therefore, not rely on these forward-looking statements as representing our views as of any date subsequent to the date the statements are made. Moreover, except as required by law, neither we nor any other person assumes responsibility for the accuracy and completeness of the forward-looking statements contained in this press release.
CONTACTS
Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7610
eholmlin@bionano.com
Investor Relations:
David Holmes
Gilmartin Group
+1 (858) 888-7625
IR@bionano.com
