Pacific Biosciences Enables Reference-Quality De Novo Human Genome Assemblies
March 02 2015 - 7:30AM
Pacific Biosciences of California, Inc., (Nasdaq:PACB) provider of
the PacBio® RS II Sequencing System, today announced that its
Single Molecule, Real-Time (SMRT®) Sequencing was featured in a
number of presentations during last week's Advances in Genome
Biology & Technology (AGBT) conference, including
demonstrations of the technology's ability to create
reference-quality de novo human genome assemblies.
Presentations at the conference highlighted the power of
PacBio's long and accurate sequencing reads to resolve difficult
regions and access novel genetic variation. At the company's
workshop, J. Craig Venter, Ph.D., of Human Longevity, Inc.
presented data about his highly studied genome, which has now been
sequenced using the PacBio RS II and assembled in the cloud on the
DNAnexus platform, creating a higher resolution version of this
reference genome at a fraction of the original time and cost.
Deanna Church, Ph.D., who has played a key role in the public
efforts to create a human reference genome, discussed the
importance of having more high-quality de novo human genomes, and
Gene Myers, Ph.D., from the Max Planck Institute discussed his work
to develop computational methods to enable perfect assemblies using
SMRT Sequencing data. To highlight the importance of
population-specific reference genomes, Jeong-Sun Seo, M.D., Ph.D.,
of the Seoul National University College of Medicine and co-founder
of Macrogen, Inc. discussed progress with the Asian Genome Project,
which is also using the PacBio RS II for de novo genome assembly of
Asian subpopulations. In addition, W. Richard McCombie from Cold
Spring Harbor presented analysis of structural re-arrangements and
gene amplifications in a breast cancer cell line genome.
"As a result of continual performance improvements with the
PacBio RS II, it is now feasible to return to reference-quality de
novo human genome assemblies and no longer rely on a single
reference genome that does not adequately represent the variation
in the global population," said Michael Hunkapiller, Ph.D., CEO of
Pacific Biosciences. "With the performance improvements planned for
this year, we expect the cost to generate a human genome on the
PacBio RS II to drop to around $10,000, which is not a high premium
to pay for the superior quality and completeness that SMRT
Sequencing provides. This cost will only continue to drop as we
maintain our track record of performance improvements."
Evan Eichler, Ph.D., from the University of Washington presented
more data about his work on characterizing complex variation in the
human genome using SMRT Sequencing. This work was originally
published in the journal Nature. In the poster sessions, Mark
Salit, Ph.D., from the National Institute for Standards and
Technology and Robert Sebra, Ph.D., from the Icahn School of
Medicine at Mount Sinai discussed aspects of their collaboration to
create a genome reference for the Ashkenazi Jewish population using
a mother, father, child trio. In addition, the Genome Reference
Consortium presented de novo assemblies for two human cell lines
targeted for "platinum-grade" references.
Jonas Korlach, Ph.D., Chief Scientific Officer of Pacific
Biosciences, added: "We are excited to see how our customers are
using SMRT Sequencing for an increasing number of important human
and other complex genome studies, including characterizing
variation beyond SNPs, developing population-specific genome
references, and resolving the genetic basis of disease. We are also
delighted to support the efforts by many in the community to raise
the bar on the completeness and quality of genome information."
More information about the data presented at the workshop is
available here:
http://programs.pacificbiosciences.com/l/1652/2015-02-23/312lbw. To
learn more about how to access PacBio de novo genome assembly data
using the DNAnexus cloud-based platform, please visit:
https://dnanexus.com/falcon.
About Pacific Biosciences Pacific
Biosciences of California, Inc. (Nasdaq:PACB) offers the PacBio® RS
II Sequencing System to help scientists resolve genetically complex
problems. Based on its novel Single Molecule, Real-Time (SMRT®)
technology, the company's 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 in the most comprehensively studied human cell lines;
targeted sequencing to more comprehensively characterize genetic
variations; and DNA base modification identification to help
characterize epigenetic regulation and DNA damage. Our technology
provides the industry's highest consensus accuracy and longest read
lengths along with the ability to detect real-time kinetic
information. The PacBio RS II System, including consumables and
software provides 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 for, performance of, and cost of
using 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 and other factors
that are, in some cases, beyond the Company's control and could
materially affect actual results. Factors that could materially
affect actual results can be found in our most recent filings with
the Securities and Exchange Commission, including our most recent
reports on Forms 8-K, 10-K, and 10-Q, and include those listed
under the caption "Risk Factors." The Company undertakes no
obligation to update forward-looking statements.
CONTACT: For Pacific Biosciences:
Media:
Nicole Litchfield
415.793.6468
nicole@bioscribe.com
Investors:
Trevin Rard
650.521.8450
ir@pacificbiosciences.com
Pacific Biosciences of C... (NASDAQ:PACB)
Historical Stock Chart
From Mar 2024 to Apr 2024
Pacific Biosciences of C... (NASDAQ:PACB)
Historical Stock Chart
From Apr 2023 to Apr 2024