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PacBio Long-Read Sequencing Featured at ASHG Annual Meeting
Highlights include release of new chemistry and more than 25 presentations demonstrating utility of SMRT Sequencing for human genetics applications
MENLO PARK, Calif., Oct. 15, 2018 (GLOBE NEWSWIRE) -- Pacific Biosciences of California, Inc. (Nasdaq:PACB), the leading provider of high-quality sequencing of genomes, transcriptomes and epigenomes, today announced that more than 25 presentations at the upcoming American Society for Human Genetics (ASHG) annual meeting in San Diego will feature the company’s Single Molecule, Real-Time (SMRT®) technology, including platform presentations, posters, a company-hosted educational workshop and exhibit hall presentations.
A PacBio workshop titled “High-Quality, Long-Read PacBio Sequencing for Human Genetics Research – Discover What’s New!” will take place on Thursday, October 18th, between 12:30-1:45 pm PT. The workshop will be hosted by Chief Scientific Officer Jonas Korlach, Ph.D., who will be describing the release of the company’s newest sequencing chemistry as well as its technology roadmap.
Speakers at the workshop include:
- Stuart Scott, Ph.D., Assistant Professor, Department of Genetics and Genomic Sciences, Mount Sinai Genetic Testing Laboratory, who will discuss amplicon SMRT Sequencing applications in human genetics;
- Janet Song, Ph.D. candidate, Department of Genetics, Stanford School of Medicine, who will discuss characterization of a large, human-specific tandem repeat associated with bipolar disorder and schizophrenia; and
- Elizabeth Tseng, Ph.D., Principal Scientist at Pacific Biosciences, who will discuss the Iso-Seq® method for discovering alternative splicing in human diseases.
Attendees interested in reserving a seat at the workshop can register here.
“We are very excited about our newest chemistry release, which exhibits substantial increases in sequence read lengths, throughput and accuracy,” said Jonas Korlach, Ph.D., Chief Scientific Officer of Pacific Biosciences. “Average read lengths of up to 100 kb and yields per SMRT Cell of up to 50 Gb will greatly benefit customers for applications such as full-length transcript isoform sequencing, structural variation analysis and targeted sequencing. Due to the unique capabilities of PacBio sequencing, the improvements provide a significant increase in highly accurate (>99%) individual long reads. This opens new opportunities for comprehensively mapping all human genetic variation – from SNVs to indels to SVs – in a single assay and paves the way for a new era of population-scale, high-quality human genome studies.”
Other Scientific program highlights featuring SMRT Sequencing include:
- A platform presentation (#185) by Fritz Sedlazeck at the Baylor College of Medicine titled “Illuminating the dark genome: Evaluation of technologies to assess medically relevant dark spots” on Thursday, October 18th at 11:00 am;
- A poster (#2731) from Peter Audano of the University of Washington titled “Structural variation of the human population: Characterizing and sequence-resolving variation to identify common alleles, correct reference errors, and improve short-read analysis”;
- The Genome Reference Consortium & Genome in a Bottle consortium workshop on Tuesday, October 16th from 1:00 – 4:00 pm titled “Getting the Most from the Reference Assembly and Reference Materials”; and
- The CoLab Session on Friday, October 19th at 10:00 am, where ASHG meeting attendees will also have the opportunity to hear from PacBio scientists on the exhibit hall floor in a session titled “Resolving the Genetics of Human Diseases with PacBio Sequencing of Structural Variants and Alternative Splicing.” The session will consist of two talks, one on targeted full-length transcriptome sequencing using the Iso-Seq method, and the second on structural variant calling with the Sequel System and SMRT Link 6.0.
The full list of PacBio-related presentations is available on the company’s website.
Attendees can also visit PacBio at booth #705.
PacBio will be sponsoring a grant program again this year for scientists interested in a chance to win free SMRT Sequencing for their human genetics sequencing projects. 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.
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