Pacific Biosciences Enables Reference-Quality De Novo Human Genome Assemblies
Monday, March 2, 2015
MENLO PARK, Calif., March 2, 2015 (GLOBE NEWSWIRE) — 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: https://go.pardot.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
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Source: Pacific Biosciences of California, Inc.
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