SMRT Sequencing of Human Genomes to be Showcased at AGBT Conference

Presentations will highlight importance of SMRT Sequencing for rare diseases, structural variation, and more


MENLO PARK, Calif., Feb. 12, 2018 (GLOBE NEWSWIRE) -- Pacific Biosciences of California Inc., (Nasdaq:PACB) today announced its Single Molecule, Real-Time (SMRT®) Sequencing technology will be demonstrated in several presentations and posters at the annual Advances in Genome Biology & Technology (AGBT) conference taking place February 12-15 in Orlando. PacBio is also an official sponsor of this year’s meeting.

The poster and podium presentations will demonstrate how, by using the latest advances in SMRT Sequencing, it is now possible to conduct large cohort human genome sequencing studies to detect structural variants that are known to cause rare disease or contribute to common traits. These larger structural variants are now understood to be broadly missing from variant databases built with short-read DNA sequencing methods, and may account for a sizable fraction of the causative genetic variants underlying health and disease traits. 

For example, a talk from customer Alexander Hoischen, Ph.D., of Radboud University Medical Center in the PacBio workshop (Thursday, February 15, at 9:40 a.m.) will focus on the use of SMRT Sequencing to detect structural variants in rare diseases in work associated with the recently launched SOLVE-RD research program. The consortium aims to apply new long-read sequencing methods to 500 previously unsolved rare disease cases. 

PacBio will host a series of “Lightning Talks” in the company’s hospitality suite (Columbia Room):

  • Tuesday, February 13, 8:30 a.m.
    What’s New with the Sequel® System? More Data, Better Biology
    Jonas Korlach, Ph.D., CSO
  • Tuesday, February 13, 10:45 a.m.
    PacBio® Long-Read WGS for Structural Variant Discovery
    Aaron Wenger, Ph.D., Principal Scientist
  • Wednesday, February 14, 10:30 a.m.
    No-Amp Targeted Enrichment & SMRT Sequencing of Repeat-Expansion Disease Causative Genomic Regions
    Jonas Korlach, Ph.D., CSO

In a poster presentation entitled “Population-Scale Discovery of Structural Variants with PacBio SMRT Sequencing,” Aaron Wenger, Ph.D., will describe how combining the latest SMRT Sequencing technology advances with improved variant calling is making population-scale human genome sequencing practical and cost-effective for high-throughput sequencing labs.

Other posters and presentations will illustrate the usefulness of SMRT Sequencing data for full-length transcript profiling with the Iso-Seq® method, multiplexed microbial genome sequencing, agbio, and other applications.

“As we continue to enhance the throughput and performance of our Sequel System, it is exciting to see how this platform is powering new discoveries that were never possible with other sequencing technologies,” said Kevin Corcoran, Senior Vice President of Market Development for PacBio. “We look forward to the AGBT posters and presentations through which our customers will share their impressive work and demonstrate the unparalleled value of SMRT Sequencing for resolving even the most challenging genomic regions.”

A complete list of PacBio-related talks and company-sponsored special events at AGBT is available here. For more information, please visit http://www.pacb.com/.

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 future availability, uses, quality or performance of, or benefits of using, products or technologies, future product enhancements, the suitability or cost-effectiveness of products for particular applications or projects 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