Novel Human Genetics Discoveries Using PacBio Long-Read Sequencing to be Presented at ASHG Annual Meeting
October 17 2016 - 07:30AM
Pacific Biosciences of California, Inc. (Nasdaq:PACB), today
announced that its Single Molecule, Real-Time (SMRT®) Sequencing
technology will be featured in more than 38 presentations at this
week’s American Society of Human Genetics (ASHG) annual
meeting taking place in Vancouver, Canada.
The company will also introduce a new Sequel System chemistry
release (1.2.1) that enables loading of sequencing libraries with
average insert size of 20-30 kb onto Sequel SMRT Cells with a
~50-fold reduction of DNA input requirement compared to previous
Sequel chemistry. Internal results using the new Sequel System
chemistry, which have been replicated at several beta sites, have
shown mapped read-length N50s of >16 kb and output of >5 Gb
per Sequel SMRT Cell. Additional details will be discussed during
the company’s ASHG workshop (more details on the event below), and
commercial availability is expected starting October 25, 2016.
Highlights from the scientific presentations featuring PacBio®
sequencing include:
- Targeted long-read sequencing of genomic disorders to identify
complex structural variation events
- Concurrent invited session 1 on Wednesday, 10/19 at 12 p.m.:
“Mechanisms of Rearrangements in Genomic Disorders: From the
Bedside to the Bench Side,” with speaker Christine R. Beck from the
Baylor College of Medicine
- Platform presentation #164 on Thursday, 10/20 at 12:45 p.m.:
“Combined Next Generation Sequencing Techniques Untangle the
Genomic Structure of Complex Nonrecurrent Deletions in Subjects
with Smith-Magenis Syndrome and Reveal a Strong Bias to Paternally
Deleted Chromosomes,” with speaker Claudia Fonseca from Baylor
College of Medicine
- Integrative Genomics Viewer (IGV) improvements for
visualization of structural variants and phased allele haplotypes
in long contiguous PacBio single-molecule reads
- Interactive invited workshop on Thursday, 10/20 at 7:15 a.m.:
“Introduction to the Integrative Genomics Viewer (IGV)”
(speaker?)
- Use of the Iso-Seq™ method for annotation of novel genes and
alternatively spliced gene isoforms in clinically significant genes
- Platform presentation on Saturday, 10/22 at 9:45 a.m.:
“Improving gene annotation to facilitate identification of missing
variants of clinical significance,” with speaker Adam Frankish of
the Wellcome Trust Sanger Institute
- Haplotype phasing of full-length genes and gene transcripts
using long-read sequencing of long-range PCR amplicons
- Poster #698: “Haplotype Phasing of Key Cardiac Disease Genes at
Genome and Transcriptome Levels Using Long-read Sequencing
Technologies,” by Alexandra Dainis of Stanford University
- Novel targeted sequencing methods for improved resolution of
structural variants in disease-causing genes
- Poster #3324: “Single Molecule, Real-Time (SMRT) Sequencing of
Expanded Spinocerebellar Ataxia Type 10 (SCA10) Pentanucleotide
Repeat Alleles Directly from Genomic DNA,” by Tetsuo Ashizawa of
the Houston Methodist Research Institute
- Poster #1690: “SMRT Sequencing of STR Expansions in SCA31 Brain
Disease,” by Wei Qu of the University of Tokyo
- Cost-effective methods to replace Sanger sequencing for
validation of variants
- Poster #996: “SMRTer Confirmation”: Scalable
Clinical Read-through Variant Confirmation Using the Pacific
Biosciences SMRT® Sequencing Platform,” by Sarah McCalmon from
Invitae Corporation
PacBio Workshop at ASHG and Streaming
OnlinePacBio will also be hosting a workshop on Thursday,
10/20 at 1:00 p.m. Pacific Time entitled “Discovering and Targeting
Causative Variation Underlying Human Genetic Disease Using SMRT
Sequencing.” The workshop will focus on genetic discovery advances
using the new Sequel System, with a keynote presentation by Euan
Ashley from Stanford University School of Medicine. Dr. Ashley’s
talk will feature the use of 10-fold long-read WGS of an individual
to demonstrate the improved structural variant discovery power of
SMRT Sequencing for precision medicine over short-read NGS methods.
Dan Burns from Duke University will also be speaking at the
workshop and highlighting the improved structural variant resolving
power of PacBio long-read sequencing in targeted sequencing
studies. Melissa Laird Smith’s workshop talk will feature Sequel
data generated at the Icahn School of Medicine at Mount Sinai,
where SMRT Sequencing is used as a translational research tool to
investigate germline, somatic and infectious disease.
The workshop will be hosted by PacBio Chief Scientific Officer,
Jonas Korlach, who will be sharing updates on PacBio’s technology
roadmap, including the new chemistry release and loading
improvements mentioned above. Dr. Korlach will also be presenting
data from 10-fold sequencing of the well-studied NA12878 human
genome using the Sequel System, and describing the >15,000
structural variants discovered in this genome using an improved
structural variant calling and visualization workflow. This dataset
will be available to view using a new version of the Integrative
Genomics Viewer, with improved support for PacBio SMRT Sequencing
data, at the PacBio booth on the exhibit hall floor (#718).
Attendees interested in reserving a seat at the workshop, or
scientists not attending the meeting who wish to watch the live
stream online, can register here.
“Last year at this time we launched our new Sequel System, and
this year scientists will hear some of the first presentations
about data and results obtained using this improved and enhanced
SMRT Sequencing platform,” said Dr. Korlach. “We are excited to
join our customers and colleagues at the industry’s most important
annual human genetics meeting, though we are deeply saddened that
one of the most important contributors to the field will not be
joining us. Dr. Allen Roses was scheduled to speak at our workshop,
and due to his unexpected passing we will take time during our
event to pay tribute to his legacy.”
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 is
the only DNA sequencing technology that provides 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 Statements
All 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, updates or
improvements of the company’s products, 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
Media:
Nicole Litchfield
415.793.6468
nicole@bioscribe.com
Investors:
Trevin Rard
650.521.8450
ir@pacificbiosciences.com
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