Consortium Aims to Share Best Practices and
Increase our Understanding of Genetic Disease
MENLO
PARK, Calif., Nov. 2, 2023
/PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of
high-quality, highly accurate sequencing solutions, today announced
the creation of the HiFi Solves consortium. This global consortium
brings together researchers from 15 leading genomics research
institutions across 11 countries to study the value HiFi-based
human genome sequencing may have in clinical research applications
and to further our understanding of genetic diseases. These
institutions will collaborate to develop and share best practices
on data generated from PacBio Revio sequencing systems, with the
goal of leveraging the comprehensiveness and completeness of HiFi
genomes in human genetics research applications.
"The launch of Revio has enabled researchers to scale HiFi
long-read sequencing at unprecedented levels," said Christian Henry, President and Chief Executive
Officer of PacBio. "By creating this consortium, we aim to
accelerate global adoption of HiFi sequencing in human genomics
through the sharing of best practices so that we may potentially
offer families an end to their diagnostic odyssey."
"Through our ongoing rare disease-focused collaboration with
PacBio, we've seen tremendous success in the use of HiFi native
long-read sequencing to explore the underlying causes of rare
genetic diseases that are challenging to identify using other
genomic methods," said Wendy Van
Zelst-Stams, Professor of Care for Rare Diseases and new
head of the human genetics department at Radboud University Medical
Center. "We look forward to collaborating with our global
colleagues to share best practices in the use of this technology
for rare disease research as we believe it offers the potential to
provide tremendous benefit to families in search of answers."
PacBio HiFi long-read sequencing has the potential to become a
single front-line assay for researchers interrogating rare disease
cohorts because of its ability to call and phase all classes of
variants accurately, unlike other technologies that require
multiple assays. Through the HiFi Solves consortium, researchers
will study the efficacy of HiFi sequencing in interrogating the
many possible genetic mechanisms that underlie rare diseases.
Members of the HiFi Solves consortium will provide an overview
of its goals and activities at the American Society of Human
Genetics Annual Meeting in Washington
D.C., and will share recent results, particularly around
exploring potentially clinically relevant genes that lie in areas
of high sequence homology or otherwise complex regions of the human
genome.
Participating institutions of the HiFi Solves consortium
are:
- Bioscientia Institute for Medical Diagnostics (GmbH)
(Germany)
- Broad Institute of MIT and Harvard (U.S.A.)
- Children's Hospital of Eastern
Ontario (Canada)
- Children's Mercy Kansas City (U.S.A)
- Chulalongkorn University
(Thailand)
- Hospital for Sick Children (SickKids) - (Canada)
- i-Lac (Japan)
- Karolinska University Hospital and Karolinska Institutet (Sweden)
- KK Women's and Children's Hospital (Singapore)
- The Max Planck Institute for Molecular Genetics (Germany)
- Medizinische Universität Innsbruck (Austria)
- National Center for Child Health and Development (Japan)
- Radboud University Medical Center (Netherlands)
- SciLifeLab (Sweden)
- University of Leuven (Belgium)
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
HiFi Solves consortium; uses, advantages, quality or performance
of, or benefits or expected benefits of using, PacBio products or
technologies; collaboration and sharing of best practices by
researchers; acceleration of global adoption of HiFi sequencing in
human genomics; potential benefits to families in search of
answers; potential to become a front-line assay for researchers;
the ability to leverage PacBio HiFi data for disease research and
provide complete solutions and end-to-end workflows; the
acceleration of discoveries, interpretations and solutions; the
impact of PacBio sequencing on human health; and other
forward-looking statements. Reported results and orders for any
instrument system should not be considered an indication of future
performance. 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; 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 and potential delays in development
timelines; the possible loss of key suppliers; and, third-party
claims alleging infringement of patents and proprietary rights or
seeking to invalidate PacBio's patents or proprietary rights.
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
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SOURCE Pacific Biosciences of California, Inc.