The Consortium Will Build a Publicly Available Database as a
Resource to Accelerate Insights from Long-Read Human Genome
Datasets
MENLO
PARK, Calif., Oct. 18,
2022 /PRNewswire/ -- PacBio (NASDAQ: PACB), a
leading developer of high-quality, highly accurate sequencing
solutions, today announced the creation of the Consortium for Long
Read Sequencing (CoLoRS) that aims to accelerate the utility of
long-read human genome datasets. CoLoRS is an open coalition of
international researchers focused on creating a comprehensive
database of frequency information for all classes of human
variation identified using long-read human whole-genome sequencing.
High quality long-read data can characterize genetic variation
inaccessible to short-read sequencing. As such, CoLoRS plans to
critically complement existing databases, help improve the
discovery of pathogenic variation, and advance the understanding of
the genomic underpinnings of rare disease, where more than half of
cases remain unexplained even after short-read genome
sequencing.
"PacBio is proud to collaborate with these innovative
investigators to build this much needed resource for the genomics
research community," said Edd Lee, Director of Human Genomics
Segment Marketing at PacBio. "Population frequency is a key tool
for interpreting genetic variation. CoLoRS will extend this tool to
the variation uniquely detected by HiFi sequencing, particularly
structural variants, tandem repeats, and small variants in regions
of the genome that are difficult to sequence using other
technologies."
The founding members of CoLoRS are leaders from highly respected
research hospitals, universities, and laboratories from around the
world. Pre-existing datasets provided by consortium members will
comprise the initial set of genomes, which will be processed and
cataloged using trusted and standardized analysis pipelines. The
resulting data will be housed and accessible via National Human
Genome Research Institute's (NHGRI) Analysis, Visualization and
Informatics Lab-space (AnVIL) which is a cloud-based genomic data
sharing and analysis platform. CoLoRS has been awarded supporting
funds by the National Institutes of Health Office of Data Science
Strategy and NHGRI to help fund cloud-based variant calling and for
utilization of the database for NHGRI-funded initiatives such as
GREGoR and the All of Us Research Program.
"I'm excited to be a part of this consortium of experts
in structural variation, genomics, and clinical research to
create a database that will enable researchers to realize the full
potential of long-read sequencing technology, benefitting their
research and the collective understanding of human variation and
disease. With this database we will finally be able to consider all
types of variation across the entire human genome," said
Michael Schatz, Bloomberg
Distinguished Professor at Johns Hopkins
University.
Recent scientific publications, including those from researchers
from the Telomere-to-Telomere consortium, have demonstrated that
long-read sequencing can provide unique insights for disease and
genome research by covering regions of the genome inaccessible to
other technologies. Long-read whole-genome sequencing can detect up
to 15,000 more structural variants and 300,000 more small variants,
as well as providing significantly higher resolution of tandem
repeat regions when compared to short-read sequencing. Structural
variants, in particular, account for the majority the base-pair
differences between individuals. The CoLoRS database is intended to
help researchers by not only providing frequencies of such variants
but to also assist future structural variant and tandem repeat
genotyping initiatives.
The database is intended to be public, benefiting all
researchers, and is expected to be populated with initial data in
late 2022. To further expand the power of the database,
investigators with raw or summary level HiFi human genome datasets
are encouraged to reach out to participate.
For more information, please visit: www.ColorsDb.org.
About PacBio
Pacific Biosciences of California, Inc. (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 technology under
development stem from two highly differentiated core technologies
focused on accuracy, quality and completeness which include our
existing HiFi long read sequencing and our
emerging 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,
including statements relating to future availability, uses,
accuracy, advantages, quality or performance of, or benefits or
expected benefits of using, PacBio products or
technologies, including in connection with CoLoRS and
its efforts to build a long-read variant frequency database; the
potential of long-read sequencing technology to identify structural
and small variants; the increasing prevalence of long-read
sequencing utilization in connection with certain areas of
research, the means by which the data will be provided, processed,
catalogued and available to researchers and the public, the related
importance of frequency filtering capabilities, and the anticipated
capability of the database to assist in cataloguing and
interpreting long-read sequencing data, and other forward-looking
statements. Readers are cautioned not to place undue reliance on
these forward-looking statements and any such forward-looking
statements are qualified in their entirety by reference to the
following cautionary statements. All forward-looking statements
speak only as of the date of this press release and are based on
current expectations and involve a number of assumptions, risks and
uncertainties that could cause the actual results to differ
materially from such forward-looking statements. Readers are
strongly encouraged to read the full cautionary statements
contained in PacBio's filings with the Securities and
Exchange Commission, including the risks set forth in
PacBio's Forms 8-K, 10-K, and 10-Q. PacBio
disclaims any obligation to update or revise any
forward-looking statements.
Contacts
Investors:
Todd
Friedman
ir@pacb.com
Media:
Lizelda
Lopez
pr@pacb.com
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SOURCE Pacific Biosciences of California, Inc.