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Pacific Biosciences

Novel Human Genetics Discoveries Using PacBio Long-Read Sequencing to be Presented at ASHG Annual Meeting

Monday, October 17, 2016

  • More than 38 presentations to feature SMRT® Sequencing, including data from the new Sequel™ System
  • New Sequel System chemistry to be released that dramatically reduces input DNA requirements

MENLO PARK, Calif., Oct. 17, 2016 (GLOBE NEWSWIRE) — 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 Online
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 &#62 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.




Nicole Litchfield




Trevin Rard



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