HiFi Long-Read Sequencing Panel Supports
Comprehensive Analysis of 20 Genes Associated With Neurological
Disease
MENLO
PARK, Calif., March 12,
2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a
leading developer of high-quality, highly accurate sequencing
solutions, today announced the PureTarget repeat expansion panel, a
new solution designed to enable the comprehensive analysis of 20
genes associated with serious neurological disorders, including
challenging-to-sequence genes with tandem repeat expansions. The
new long-read workflow can minimize iterative analysis using legacy
technology, and reduce the time needed to identify disease-causing
variants and associated methylation signatures.
"HiFi sequencing is uniquely capable of comprehensively
characterizing the germline and somatic variation of tandem
repeats1 which cause dozens of neurological
diseases.2 Our new PureTarget repeat expansion panel is
designed to target these repeat expansions to help our customers
understand the underpinnings of tandem repeats," said Christian Henry, President and Chief Executive
Officer of PacBio. "This product uses a differentiated method to do
targeted long-read sequencing of DNA in its pure state. PureTarget
libraries retain methylation signatures, which saves our customers
from having to run a separate assay while providing a complete
picture for disease genes like FMR1. With a simplified
workflow and fast turnaround time, we believe this panel could
bring PacBio an increased commercial opportunity in the form of
tens of thousands of samples in the world's largest
laboratories."
Targeted sequencing is an ideal method for researchers and
commercial laboratories looking to cost-effectively study and
analyze the role of specific genes and gene variants. The 20 genes
that comprise the PureTarget repeat expansion panel are implicated
in a wide range of debilitating neurological diseases that afflict
children and adults including ataxia, Huntington's disease,
myotonic dystrophy, amyotrophic lateral sclerosis (ALS),
frontotemporal dementia (FTD) and Fragile-X disease.
"This new kit has opened up really exciting opportunities for
our research program focused on repeat expansions and inherited eye
disease," said Alice Davidson,
Associate Professor at University College London. "The relatively
lower DNA input requirements, coupled with high read depth output,
has allowed us to uncover levels of repeat mosaicism and
instability at our repeat locus of interest with affected cell
populations."
Continuing the commitment to deliver comprehensive solutions,
PacBio has prioritized delivering end-to-end workflows with their
latest products. The PureTarget Repeat Expansion Panel workflow
utilizes the recently announced Nanobind PanDNA kit, ensuring
robust results optimized for Revio and Sequel IIe users. Customers
can multiplex up to 48 samples on the PacBio Revio sequencing
system and 24 samples on the PacBio Sequel IIe sequencing system.
Additionally, PacBio provides intuitive data analysis for
genotyping through a new workflow driven by Tandem Repeat
Genotyping Tools (TRGT), as recently featured in Nature
Biotechnology.
The new PureTarget panel is expected to be available for
shipment starting March 25, 2024.
More information about PacBio application kits is available
here.
About PacBio
PacBio (NASDAQ: PACB) is a premier life
science technology company that is designing, developing and
manufacturing advanced sequencing solutions to help scientists and
clinical researchers resolve genetically complex problems. Our
products and technologies stem from two highly differentiated core
technologies focused on accuracy, quality and completeness which
include our HiFi long-read sequencing and our SBB® short-read
sequencing technologies. Our products address solutions across a
broad set of research applications including human germline
sequencing, plant and animal sciences, infectious disease and
microbiology, oncology, and other emerging applications. For more
information, please visit www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use
Only. Not for use in diagnostic procedures.
Forward-Looking Statements
This press release contains
"forward-looking statements" within the meaning of Section 21E of
the Securities Exchange Act of 1934, as amended, and the U.S.
Private Securities Litigation Reform Act of 1995. All statements
other than statements of historical fact are forward-looking
statements, including statements relating to the availability or
expected availability, uses, coverage, advantages, quality or
performance of, or benefits or expected benefits of using, PacBio
products or technologies, including the PureTarget Repeat Expansion
Panel; expectations with respect to commercialization, market
opportunities, anticipated reductions in customer time and costs to
identify variants of interest, and the development and shipment of
PacBio products, including the PureTarget Repeat Expansion Panel;
among other future events. You should not place undue reliance on
forward-looking statements because they are subject to assumptions,
risks, and uncertainties and could cause actual outcomes and
results to differ materially from currently anticipated results,
including, challenges inherent in developing, manufacturing,
launching, marketing and selling new products; rapidly changing
technologies and extensive competition in genomic sequencing;
interruptions or delays in the supply of components or materials
for, or manufacturing of, PacBio products and products under
development; potential product performance and quality issues and
potential delays in development timelines; third-party claims
alleging infringement of patents and proprietary rights or seeking
to invalidate PacBio's patents or proprietary rights; and other
risks associated with general macroeconomic conditions and
geopolitical instability. Additional factors that could materially
affect actual results can be found in PacBio's most recent filings
with the Securities and Exchange Commission, including PacBio's
most recent reports on Forms 8-K, 10-K, and 10-Q, and include those
listed under the caption "Risk Factors." These forward-looking
statements are based on current expectations and speak only as of
the date hereof; except as required by law, PacBio disclaims any
obligation to revise or update these forward-looking statements to
reflect events or circumstances in the future, even if new
information becomes available.
Contacts
Investors:
Todd Friedman
ir@pacificbiosciences.com
Media:
Lizelda Lopez
pr@pacificbiosciences.com
View original content to download
multimedia:https://www.prnewswire.com/news-releases/pacbio-announces-puretarget-repeat-expansion-panel-expanding-its-portfolio-of-end-to-end-clinical-research-solutions-302086189.html
SOURCE Pacific Biosciences of California, Inc.