Analysis Method Supports Research on the
Genetic Causes of Common Diseases
PARK, Calif., Sept. 27,
2022 /PRNewswire/ -- PacBio (NASDAQ: PACB),
a leading developer of high-quality, highly accurate sequencing
solutions, today announced the availability of a new computational
analysis method for profiling more than a million tandem repeats
(TRs) across the human genome using PacBio's native long-read HiFi
sequencing data. The Tandem Repeat Genotyping Tool (TRGT:
pronounced as "target") is intended to provide scientists with the
ability to obtain a full characterization of the sequence and
methylation status of TRs genome-wide. We believe TRGT will enable
scientists to better understand the role of known TRs in human
disease and could lead to the discovery of novel disease-causing
Tandem repeats are genetic sequences that are repeated in
series, and they can grow in length from parent to child.
Importantly, TRs have been linked to many neurological disorders
such as ALS and Huntington's disease in addition to the number one
cause of inherited mental intellectual disability, Fragile X
"We developed TRGT to characterize the genetic and epigenetic
variation in one of the most difficult variant classes, tandem
repeats" said Michael Eberle, Vice
President of Computational Biology at PacBio. "So far, tandem
repeats have been understudied due to limitations in the ability of
short-read sequencing technologies to sequence these regions of the
genome. By combining HiFi sequencing and TRGT, we intend to provide
scientists with the ability to explore and characterize these
complicated genomic regions and, ultimately, better understand
their biological impact."
TRGT is intended to enable research scientists to characterize
the sequence composition and structure, repeat unit length, and CpG
methylation for each analyzed repeat allele and flanking sequence
across the genome. The improved characterization of TR variation
may aid in the tertiary analysis for disease causing loci. For
example, TRGT can characterize the very long (thousands of base
pairs) repeats associated with certain diseases. TRGT can also
identify sequence composition changes that are potentially
associated with pathogenic expansions in diseases such as
cerebellar ataxia with neuropathy and bilateral vestibular
areflexia syndrome (CANVAS). Furthermore, because HiFi reads can
identify CpG methylation, TRGT can identify hypermethylation
signals like those observed with Myotonic Dystrophy expansions.
"The TRGT method is a major improvement on repeat expansion
analysis and is helping us to discover new and potentially
important variants that may be associated with disease in samples
from individuals with inherited disorders," said Stephan Zuchner,
MD, PhD, Professor and Chief Genomics Officer of the Miller School
of Medicine, University of Miami. Dr.
Zuchner and his colleague, Matt
Danzi, PhD, Scientist and bioinformatician, are focused on
research into the characterization of repeat expansions in healthy
and rare disease cohorts.
To improve usability, TRGT also comes with a companion tool,
TRVZ, for visualizing the read pileups and methylation data for
each repeat allele and flanking sequence analyzed.
TRGT and TRVZ are now available on GitHub:
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.
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 the use of TRGT, HiFi and other PacBio products,
technologies and computational methods to sequence, characterize
and potentially identify disease causing variants and epigenetic
modifications in the genome, 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.
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SOURCE Pacific Biosciences of California, Inc.