Highly Accurate SMRT Sequencing for Human Genetics to Be Showcased at ASHG 2019 Annual Meeting
October 10 2019 - 7:30AM
Pacific Biosciences of California, Inc. (Nasdaq:PACB), a leading
provider of high-quality sequencing of genomes, transcriptomes and
epigenomes, today announced that more than 50 presentations will
include data from the company’s Single Molecule, Real-Time (SMRT®)
sequencing platforms at next week’s American Society for Human
Genetics (ASHG) 2019 annual meeting in Houston. These presentations
include conference talks, posters, an educational workshop, and
exhibit hall demonstrations.
PacBio will host a workshop titled “Accurate and Affordable
Long-Read Sequencing of Human Genomes on the Sequel® II System,”
which will take place on Wednesday, October 16, 2019 from 12:45
p.m. to 2:00 p.m. in Lanier Ballroom AB at the Hilton
Americas-Houston hotel. The program will be hosted by Chief
Scientific Officer Jonas Korlach, PhD, and will update attendees on
the latest Sequel II software and chemistry release for highly
accurate long-read sequencing. Speakers at the workshop
include:
- Shawn Levy, PhD, Faculty Investigator, Genomic Services
Laboratory, HudsonAlpha Institute for Biotechnology, who will share
information about the Institute's adoption of PacBio human
whole-genome sequencing for multiple on-going human genetics
projects – including the NIH-funded Clinical Sequencing
Exploratory Research (CSER) project.
- Naomichi Matsumoto, MD, PhD, Chair of Human Genetics at
Yokohama City University, who will discuss the use of PacBio
long-read sequencing for disease genome analysis.
- Emily Hatas, Senior Director of Business Development at PacBio,
who will present information about the latest advancements in SMRT
Sequencing for human genetics research, including the new Sequel II
Consumables 2.0 and SMRT Link v8.0 release, and ways users can now
detect structural variants for up to two ~3Gb genomes, or
characterize alternative splicing across a whole transcriptome,
with just one SMRT Cell 8M.
Interested attendees can pre-register for the workshop.
“We are looking forward to sharing our latest product updates
and scientific advances with the human genetics community, which
will allow them to sequence human genomes and transcriptomes with
confidence,” said Dr. Korlach. “Through our workshop and other
presentations, attendees will be able to see the power of SMRT
Sequencing for de novo genome assembly, targeted sequencing,
isoform sequencing and variant detection, including finding
important structural variants.”
The following podium and poster presentations represent a
selection of the more than 50 presentations that will include SMRT
Sequencing data, which represents a doubling over the number last
year.
Platform Presentations:
- #57 on Wednesday, 10/16 at 5:30 p.m.: “Single-cell isoform RNA
sequencing characterizes isoforms in thousands of cerebellar
cells,” by Hagen Tilgner, PhD, from Weill Cornell Medicine.
- #221 on Thursday, 10/17 at 4:15 p.m.: “A robust and
production-level approach to haplotype-resolved assembly of single
individuals,” moderated by Avery Davis Bell from Harvard Medical
School and Joanna Kaplanis, from the Wellcome Sanger Inst, Hinxton,
UK.
- #223 on Thursday, 10/17 at 4:15 p.m.: “Long-read single
molecule, real-time (SMRT) sequencing of NUDT15: Phased full gene
haplotyping and pharmacogenomic allele discovery,” with Yao Yang,
PhD, from the Icahn School of Medicine at Mount Sinai.
- #313 on Saturday, 10/19 at 9 a.m.: “Incorporating long
transcriptomic data into GENCODE,” with Jane Loveland, PhD, from
European Molecular Biology Laboratory, European Bioinformatics
Institute, Hinxton, United Kingdom.
Poster Presentations:
- Poster #1068: “Comprehensive structural and copy-number variant
detection with long reads,” by Aaron Wenger, PhD,
of PacBio.
- Poster #1455: “Full-length RNA-seq of Alzheimer brain sample on
the PacBio Sequel II platform,” by Elizabeth Tseng, PhD,
of PacBio.
- Poster #1692: “High-quality human genomes achieved through HiFi
sequence data and FALCON-Unzip Assembly,” by Zev Kronenberg,
PhD, of PacBio.
- Poster #1866: “Detection and phasing of small variants in
Genome in a Bottle samples with highly accurate long reads,”
by William Rowell of PacBio.
Other scientific program highlights featuring SMRT Sequencing
include the CoLab Session on Friday, October
18 at 10:00 a.m. in Theater 3, where ASHG meeting
attendees will have the opportunity to hear from PacBio scientists
on the exhibit hall floor in the session “PacBio Sequel II System:
Structural Variants and Whole Transcriptome in 1 SMRT Cell Each.”
The session will include talks on whole genome sequencing for
structural variation discovery and Iso-Seq® Analysis. Attendees can
also visit PacBio at booth #1020. PacBio will be sponsoring a grant
program for scientists interested in a chance to win free SMRT
Sequencing for their human genetics sequencing projects, including
scientists who are not attending this year’s ASHG annual meeting.
For more information visit www.pacb.com/smrtgrant.
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 Statements
All statements in this press release that are not historical are
forward-looking statements, including, among other things,
statements relating to product updates or enhancements, upcoming
conference presentations, the attributes of the Sequel II System,
the future availability, uses, accuracy, quality or performance of,
or benefits of using, products or technologies, the suitability or
utility of methods, products or technologies for particular
applications, studies or projects, the importance of long-read
sequencing data, 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 Litchfield415.793.6468
nicole@bioscribe.com
Investors:Trevin Rard650.521.8450 ir@pacificbiosciences.com
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