Structural Variation Detection a Key Focus of PacBio Sequencing Projects Presented at ASHG Annual Meeting
October 03 2017 - 7:30AM
Pacific Biosciences of California, Inc. (Nasdaq:PACB), today
announced that the human genetics community is demonstrating
increasing recognition of the value of Single Molecule, Real-Time
(SMRT®) Sequencing technology for structural variant detection and
other key genetics applications, as evidenced by the more than 30
presentations to be featured at the upcoming American Society
of Human Genetics (ASHG) annual meeting in Orlando.
Significant scientific advances will be presented in structural
variation, amplification-free targeted sequencing, and the Iso-Seq®
method for transcriptome analysis, among others.
“We are looking forward to updating the community on our
recently launched solution for structural variation detection,
including our new pbsv software that boosts sensitivity for
identifying large insertions and deletions while dramatically
lowering project costs for Sequel® System users,” said Jonas
Korlach, Chief Scientific Officer of PacBio. “We are also excited
to share an update on our amplification-free targeted sequencing
application in development, which will advance the study of
disease-causing loci that are difficult to target and sequence,
such as the genes responsible for Huntington’s disease and Fragile
X syndrome.” This method was recently featured in a Nature
publication focused on Parkinson’s disease from scientists at
Houston Methodist Research Institute and collaborating
institutions.
Scientific Program Highlights
Highlights from the scientific presentations featuring SMRT
Sequencing include:
- “Advances in the Genetics of Autoimmune Disease,” a Concurrent
Platform Session on October 19th from 11:00 am-12:30 pm featuring a
talk titled “The MHC Diversity in Africa Resource: A roadmap to
understanding HLA diversity in Africa,” by Martin Pollard of the
Wellcome Trust Sanger Institute.
- “Analysis of Cancer Genome Variation Using Long-read
Sequencing,” a Concurrent Invited Session on October 19th from
4:15-6:15 pm featuring presentations from Fritz Sedlazeck of Baylor
College of Medicine and Jacques Banchereau of Jackson Labs for
Genomic Medicine.
- Xufeng Zhao and Mark Chaisson, on behalf of the Human Genome
Structural Variation Consortium, will present a poster titled
“Comprehensive Discovery of Structural Genomic Variants Through
Integration of Multiple Sequencing Platforms,” October 18th from
2:00-3:00 pm (Poster #1501). This team recently released a preprint
on bioRxiv detailing the structural variant analysis of three
family trios, finding 10 times more variants than previous 1000
Genomes Project efforts with short-read technology.
- A “Reviewer’s Choice Poster” by PacBio scientist Tyson Clark
titled “Targeted Enrichment Without Amplification and SMRT
Sequencing of Repeat-expansion Disease Causative Genomic Regions,”
October 18th from 3:00-4:00 pm (Poster #1480).
- Genome Reference Consortium (GRC) & Genome in a Bottle
consortium (GIAB) Workshop on October 17th from 1:00-4:00 pm,
which will discuss the latest updates and improvements to the human
reference genome assembly.
SMRT Sequencing Workshop PacBio will hold a
workshop entitled “Population and Clinical Genetics Studies Using
Long-Read SMRT Sequencing” on Wednesday October 18th between
12:30-1:45 pm. The workshop will be hosted Dr. Korlach, who will be
sharing updates on the company’s recent progress and technology
roadmap.
Speakers at the workshop include: Han Brunner, Head Clinical
Genetics, Radboud University Medical Center who will discuss his
work using SMRT Sequencing to find genetic variants underlying
intellectual disabilities; Karen McFarland, Professor, University
of Florida, College of Medicine, Dept. of Neurology who will
discuss using a new PacBio method for amplicon-free enrichment
using CRISPR/Cas9 on patient samples with ataxia (SCA10) and
Parkinson’s disease; and Charles Lee, Scientific Director and
Professor at The Jackson Laboratory for Genomic Medicine and Co-PI
for the 1000 Genomes Project, SV Working Group, who will discuss
recent progress on the 1000 Genomes Project and his work with the
Human Genome Structural Variation Consortium.
Attendees interested in reserving a seat at the workshop can
register here.
CoLab Session
ASHG meeting attendess will also have the opportunity to hear a
talk on the Exhibit Hall floor as part of a CoLab Session on
Friday, October 20th, titled “CRISPR/Cas9 enrichment and long-read
WGS for structural variant discovery.” PacBio and its collaborators
have employed this new method to target and sequence multi-kilobase
long repetitive elements that cause repeat expansion disorders in
genes such as HTT, FMR1, C9orf72, and ATXN10. PacBio
scientists will also discuss a new low-fold, long-read whole-genome
sequencing method that can sensitively detect upwards of 20,000
structural variants in a human genome with a very low 5%
false-discovery rate.
PacBio will also be exhibiting at ASHG in booth #722.
About Pacific Biosciences
Pacific Biosciences of California, Inc. (NASDAQ:PACB)
offers sequencing systems to help scientists resolve genetically
complex problems. Based on its novel Single Molecule, Real-Time
(SMRT®) technology, Pacific Biosciences’ products enable: de novo
genome assembly to finish genomes in order to more fully identify,
annotate and decipher genomic structures; full-length transcript
analysis to improve annotations in reference genomes, characterize
alternatively spliced isoforms in important gene families, and find
novel genes; targeted sequencing to more comprehensively
characterize genetic variations; and real-time kinetic information
for epigenome characterization. Pacific Biosciences’ technology
provides high accuracy, ultra-long reads, uniform coverage, and the
ability to simultaneously detect epigenetic changes. PacBio®
sequencing systems, including consumables and software, provide a
simple, fast, end-to-end workflow for SMRT Sequencing. More
information is available at www.pacb.com.
Forward-Looking StatementsAll statements in
this press release that are not historical are forward-looking
statements, including, among other things, statements relating to
future uses, quality or performance of, or benefits of using,
products or technologies, the suitability of the company’s products
for particular applications and other future events. You should not
place undue reliance on forward-looking statements because they
involve known and unknown risks, uncertainties, changes in
circumstances and other factors that are, in some cases, beyond
Pacific Biosciences’ control and could cause actual results to
differ materially from the information expressed or implied by
forward-looking statements made in this press release. Factors that
could materially affect actual results can be found in Pacific
Biosciences’ most recent filings with the Securities and
Exchange Commission, including Pacific Biosciences’ most recent
reports on Forms 8-K, 10-K and 10-Q, and include those listed under
the caption “Risk Factors.”Pacific Biosciences undertakes no
obligation to revise or update information in this press release to
reflect events or circumstances in the future, even if new
information becomes available.
Contacts for PacBio:
Media: Nicole Litchfield 415.793.6468 nicole@bioscribe.com
Investors:Trevin Rard650.521.8450ir@pacificbiosciences.com
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