Consortium Delivers Publicly Available
Datasets that Enrich Detection of Rare and Novel Genetic Variants
for Advances in Human Disease Research
MENLO
PARK, Calif., June 10,
2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a
leading developer of high-quality, highly accurate sequencing
solutions, in collaboration with the international Consortium for
Long-Read Sequencing (CoLoRS), today announced the launch of the
first publicly available and free HiFi long-read variant frequency
database with global representation. This innovative resource fills
a critical void for rare disease researchers, providing access to
genetic variants that are not detectable through short-read
sequencing methods. By enabling the filtering of common structural
variants from long-read sequencing data, this database allows for
the identification of rare and novel variants in rare disease
cases. The launch of this database better enables researchers to
utilize long-read genomic data to advance human health
research.
"Joining forces with PacBio has enabled us to leverage their
HiFi sequencing capabilities, enhancing the depth and accuracy of
the genomic data we can offer to the research community," said
Michael Schatz, Bloomberg
Distinguished Professor at Johns Hopkins
University. "This effort complements existing databases such
as gnomAD, as long reads enable much greater sensitivity and
precision for complex variants (SVs) and tandem repeats. The CoLoRS
database is a tremendous step forward in our collective effort to
understand complex genetic variations and their implications in
disease."
Studies have shown that long-read sequencing finds 15,000 more
structural variants (SVs) and 300,000 more small variants than
short reads. SVs are crucial as they account for much of the
genetic diversity between humans and are associated with disease
pathogenesis. The CoLoRS database integrates data from nearly 1,000
long-read genomes, providing detailed insights into human variation
and improving the detection of complex variants and tandem repeats.
This resource is developed by a global coalition from top clinical
and academic institutions, pooling diverse long-read genome data
from various research projects.
"We are thrilled to see the launch of the CoLoRS database, a
pivotal development in genomics research," said Christian Henry, President, and Chief Executive
Officer of PacBio. "This collaboration with the CoLoRS members
exemplifies our commitment to supporting the scientific community
with tools that enhance the accuracy and utility of genetic
research. It also demonstrates the unique capabilities of our HiFi
sequencing technology. By making this information accessible to the
public, we are empowering researchers around the world to make
significant advances in areas such as oncology, rare diseases, and
genetic disorders."
Researchers are invited to access the CoLoRS database and
explore its capabilities at www.colorsdb.org. Supported by PacBio's
HiFi sequencing technology, this platform provides researchers with
new insights into human genomic variation, accelerating
advancements in critical areas of medical research.
About PacBio
PacBio (NASDAQ: PACB) is a premier life
science technology company that designs, develops, and manufactures
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 may
contain "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
uses, coverage, advantages, quality or performance of, or benefits
or expected benefits of using, PacBio products or technologies;
enabling researchers to utilize long-read genomic data to advance
human health research; empowering researchers to make significant
advances in areas such as oncology, rare diseases, and genetic
disorders; and 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 sequencing a
large number of whole human genomes, and the difficulty of
generating discoveries across various areas of research;
unanticipated increases in costs or expenses; 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; 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 international operations. 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:
pr@pacificbiosciences.com
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SOURCE Pacific Biosciences of California, Inc.