Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping
(OGM) solutions on the Saphyr® system and provider of NxClinical™,
the leading software solutions for visualization, interpretation
and reporting of genomic data, capped off the last day of 2022
Symposium, the Company’s premiere event showcasing OGM research
applications across key clinical areas of constitutional genetic
disease, hematologic malignancies, solid tumors and OGM combined
with next-generation sequencing (NGS).
Today’s presentations demonstrated that the combination of OGM
and NGS can reveal more answers than NGS alone, with
cost-effective, scalable, sensitive, accurate and comprehensive
genome analysis for genetic disease and cancer research. NGS is
unable to accurately measure structural variants (SVs), which can
be overcome by the complementarity of OGM to enable accurate
detection of variants from single base pairs to full
chromosomes.
The combined approach of OGM and NGS changed the way
researchers approached workflows for evaluation of hematologic
malignancies. In his presentation, Dr. Ravindra Kolhe,
from the Medical College of Georgia at Augusta University, shared a
unique approach that added value to the existing NGS workflow by
combining OGM with a 523-gene panel on NGS. The combination
resulted in additional information beyond what a smaller 54-gene
panel, karyotype and fluorescent in situ hybridization (FISH) could
detect, including single-nucleotide variants (SNVs), copy number
variants (CNVs) and translocations. Dr. Kolhe also shared one of
the first visualizations of the combination of OGM and sequencing
data using BioDiscovery’s NxClinical software, which enables a
streamlined interpretation for both data types in an integrated
simplified view for faster time to results.
In her presentation, Dr. Gordana Raca, from Children's Hospital
Los Angeles, shared how OGM and capture-based transcriptome
sequencing (RNA-Seq) enabled an increase in variant detection and
molecular subtyping for previously unknown cases in pediatric
B-cell acute lymphoblastic leukemia (B-ALL). Use of these
techniques allowed discovery of novel fusions associated with
pediatric B-ALL and helped elucidate the chromosomal mechanism
through which these abnormal fusions were generated.
In a third presentation, Dr. Rashmi Kanagal Shamana, from MD
Anderson Cancer Center, discussed a comprehensive assessment of a
large myelodysplastic syndrome (MDS) cohort using OGM and a
targeted NGS panel. Results showed that the high throughput whole
genome structural variant profiling enabled by OGM revealed a much
higher frequency of SVs in MDS, half of which were not detected by
conventional karyotyping. These cryptic clinically significant SVs
were seen in approximately 30% of MDS patients in her research
study and resulted in change in the prognostic category for 10% of
the subjects.
Applications of OGM + NGS to investigations of genetic
disease revealed new disease-causing variants and showed improved
performance over other methods. Dr. Kornelia Neveling,
from Radboud University Medical Center, presented on how OGM and
long-read HiFi genome sequencing helped to identify different types
of hidden structural variants in three subjects with inherited
retinal diseases.
Dr. Laila El-Khattabi, from Assistance Publique–Hôpitaux de
Paris (AP-HP), presented findings from her study using OGM to
characterize apparently balanced SVs found in people with
developmental disorders. Their molecular characterization is
essential to establishing proper genotype-phenotype correlations,
which is not possible with current cytogenetic techniques.
Short-read whole genome sequencing (srWGS) is capable of detecting
balanced rearrangements, at a resolution down to one base pair, but
has a high failure rate. Dr. El-Khattabi’s results suggested that
OGM may allow for a higher detection rate of SVs and complement
srWGS in developmental pathologies for a more complete analysis of
the genome.
In cancer research, OGM + NGS were used to characterize
both germline and tumor genetic aberrations. During her
presentation, Dr. Mariangela Sabatella, from Princess Máxima Center
for Pediatric Oncology, described a case in which OGM revealed an
underlying germline mutation in a family with two siblings who were
neonatally diagnosed with atypical teratoid rhabdoid tumor (ATRT).
This rare pediatric tumor is associated with biallelic inactivation
of SMARCB1. Routine analysis did not identify any clear pathogenic
SMARCB1 variants. OGM was the only method used by Dr. Sabatella
that could identify the ATRT predisposing insertion of an SVA-E
retrotransposon element of ~2.8 kb.
Dr. Jens Luebeck, from University of California San Diego,
presented on how combining OGM and NGS revealed the complex
structures of circular extrachromosomal DNA (ecDNA) and other
genomic focal amplifications in cancer genomes, especially in
tumors. These genetic changes are associated with lower patient
survival and enhanced tumor evolution. Using a combination of OGM
and NGS, Dr. Luebeck was able to reveal megabase-scale maps of
ecDNA, ecDNA-derived homogenous staining regions (HSRs), and other
focal amplifications in multiple cancer cell lines, demonstrating
the combined power of these methods.
“We believe the combination of OGM with NGS demonstrates how
structural variant detection can add key information to our
understanding across multiple clinical areas, as today’s sessions
reflected,” remarked Alka Chaubey, PhD, FACMG, Chief Medical
Officer of Bionano. “As 2022 Symposium closes, we are so excited by
all of the science shared and look forward to ongoing
collaborations with our colleagues.”
“Today’s sessions support our belief that OGM can be performed
side-by-side with NGS in multiple applications for a scalable and
more comprehensive detection of genetic variants,”
commented Erik Holmlin, PhD, President and Chief Executive
Officer of Bionano. “The quality of the research shared this week
demonstrates the continued impactful application of OGM. Once
again, I’d like to express my sincere gratitude to our customers
for their continued collaboration and feedback.”
The online conference center for 2022 Symposium will be
available for the entire year so register now to view all the
content! Symposium registration is open to all and free,
so everyone can experience all of the recorded presentations and
posters from the event. Register today at
https://www.labroots.com/ms/virtual-event/bngo2022.
About Bionano Genomics
Bionano Genomics 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 business, the Company also
provides diagnostic testing for patients with clinical
presentations consistent with autism spectrum disorder and other
neurodevelopmental disabilities. Through its BioDiscovery business,
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. For more information, visit
www.bionanogenomics.com,
www.lineagen.com or www.biodiscovery.com
Forward-Looking Statements of Bionano
Genomics
This press release contains forward-looking statements within
the meaning of the Private Securities Litigation Reform Act of
1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,”
“estimate,” “intend” and similar expressions (as well as other
words or expressions referencing future events, conditions or
circumstances) 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 benefits of
combining OGM with NGS, including cost-effectiveness, scalability,
accuracy and comprehensiveness; the ability of the combination of
OGM with NGS to accurately measure SVs; OGM’s ability to complement
srWGS; and the ability of structural variant detection to add to
clinical findings in multiple areas. 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 the COVID-19 pandemic on our business and the global
economy; general market conditions; changes in the competitive
landscape, including the introduction of competitive technologies
or improvements in existing technologies; failure of future study
results to support those demonstrated during the presentations
referenced in this press release; changes in our strategic and
commercial plans; our ability to obtain sufficient financing to
fund our strategic plans and commercialization efforts; the ability
of medical and research institutions to obtain funding to support
adoption or continued use of our technologies; and the risks and
uncertainties associated with our business and financial condition
in general, 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, 2020 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 do not undertake any
obligation to publicly update any forward-looking statements,
whether as a result of the receipt of new information, the
occurrence of future events or otherwise.
CONTACTSCompany Contact:Erik
Holmlin, CEOBionano Genomics, Inc.+1 (858)
888-7610eholmlin@bionanogenomics.com
Investor Relations:Amy ConradJuniper Point+1
(858) 366-3243amy@juniper-point.com
Media Relations:Michael SullivanSeismic+1 (503)
799-7520michael@teamseismic.com
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