Researchers to Investigate Genetic Variants
Associated with Rare Pediatric Diseases
MENLO
PARK, Calif., Dec. 6, 2022
/PRNewswire/ -- PacBio, a leading developer of high-quality, highly
accurate sequencing solutions, today announced its HiFi sequencing
technology will be used in a pilot project for the
Children's Rare Disease Cohorts
Initiative (CRDC) at Boston Children's Hospital. Boston
Children's Hospital researchers will use HiFi whole-genome
sequencing (HiFi WGS) for the purpose of investigating genetic and
epigenetic variants associated with rare pediatric diseases.
Samples from individuals enrolled in multiple rare disease cohorts
that have remained undiagnosed after short-read whole exome
sequencing will be examined using HiFi WGS. The study will also
explore epigenetic variation using the ability of HiFi WGS to
measure DNA methylation in every sequencing run.
"PacBio's technology has been used to help genetic disease
researchers explain mysteries where other technologies could not,"
said Jonas Korlach, Chief Scientific
Officer at PacBio. "We are excited to support the CRDC to help
uncover the answers they have been seeking. In previous research
conducted using PacBio's technology, HiFi sequencing detected more
than two-fold structural variants and 200,000 more
single-nucleotide variants than short-read sequencing. Structural
variants contributed to over twice the number of new explanations."
"HiFi sequencing holds the promise to investigate parts of the
genome inaccessible via other technologies," said Piotr Sliz, Vice President and Chief Research
Information Officer at Boston Children's Hospital. "We hope that
HiFi sequencing will enable us to explore variation in parts of the
genome that were not previously detected, potentially enabling us
to expand our understanding of causative variation in these
patients."
The CRDC supports genomics research around strategically
selected disease areas at Boston Children's Hospital and is led by
the CRDC Steering Group. As of today, 48 rare disease cohorts have
joined the CRDC and nearly 10,000 patients with rare disease and
their family members have been sequenced. As causative variants are
identified by CRDC researchers, results are returned to
participants. Researchers participating in the CRDC have uncovered
novel mutations, are developing targeted therapies and are matching
patients with innovative clinical trials.
The pilot project will re-sequence a selection of samples from
patients who were previously analyzed with short-read sequencing
technology that are strongly suspected to have a genetic condition
but have not yet been diagnosed. The study is intended to explore
the potential benefits of HiFi WGS in identifying genetic mutations
and epigenetic variants associated with rare diseases, in
particular those that may be associated with a range of conditions,
such as brain malformations, predisposition to leukemia, congenital
hearing loss, epilepsies, and glomerular disease.
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
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 future
availability, uses, accuracy, advantages, quality or performance
of, or benefits or expected benefits of using: PacBio
products or technologies, including in connection with
the CRDC; investigating genetic and epigenetic
variants associated with rare pediatric diseases study; and other
future events. 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, including, among
others, potential product performance and quality issues; and
successfully completing a study that has not yet commenced. 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 the company's
Forms 8-K, 10-K, and 10-Q. PacBio disclaims any
obligation to update or revise any forward-looking
statements.
Contact:
Investors:
Todd Friedman
ir@pacificbiosciences.com
Media:
Lizelda Lopez
pr@pacificbiosciences.com
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SOURCE Pacific Biosciences of California, Inc.