Bionano Announces Significant Upgrades to its Bionano Solve Pipeline and its VIA™ Software for OGM Data Analysis in Constitutional Genetic Disease Research
29 December 2023 - 12:00AM
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:
- Automated
analysis and interpretation
- Calculation of
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, CEOBionano
Genomics, Inc.+1 (858) 888-7610eholmlin@bionano.com
Investor Relations:David HolmesGilmartin
Group+1 (858) 888-7625IR@bionano.com
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