X

Quality Statement

Pacific Biosciences is committed to providing high-quality products that meet customer expectations and comply with regulations. We will achieve these goals by adhering to and maintaining an effective quality-management system designed to ensure product quality, performance, and safety.

X

Image Use Agreement

By downloading, copying, or making any use of the images located on this website (“Site”) you acknowledge that you have read and understand, and agree to, the terms of this Image Usage Agreement, as well as the terms provided on the Legal Notices webpage, which together govern your use of the images as provided below. If you do not agree to such terms, do not download, copy or use the images in any way, unless you have written permission signed by an authorized Pacific Biosciences representative.

Subject to the terms of this Agreement and the terms provided on the Legal Notices webpage (to the extent they do not conflict with the terms of this Agreement), you may use the images on the Site solely for (a) editorial use by press and/or industry analysts, (b) in connection with a normal, peer-reviewed, scientific publication, book or presentation, or the like. You may not alter or modify any image, in whole or in part, for any reason. You may not use any image in a manner that misrepresents the associated Pacific Biosciences product, service or technology or any associated characteristics, data, or properties thereof. You also may not use any image in a manner that denotes some representation or warranty (express, implied or statutory) from Pacific Biosciences of the product, service or technology. The rights granted by this Agreement are personal to you and are not transferable by you to another party.

You, and not Pacific Biosciences, are responsible for your use of the images. You acknowledge and agree that any misuse of the images or breach of this Agreement will cause Pacific Biosciences irreparable harm. Pacific Biosciences is either an owner or licensee of the image, and not an agent for the owner. You agree to give Pacific Biosciences a credit line as follows: "Courtesy of Pacific Biosciences of California, Inc., Menlo Park, CA, USA" and also include any other credits or acknowledgments noted by Pacific Biosciences. You must include any copyright notice originally included with the images on all copies.

IMAGES ARE PROVIDED BY Pacific Biosciences ON AN "AS-IS" BASIS. Pacific Biosciences DISCLAIMS ALL REPRESENTATIONS AND WARRANTIES, EXPRESS, IMPLIED OR STATUTORY, INCLUDING, BUT NOT LIMITED TO, NON-INFRINGEMENT, OWNERSHIP, MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. IN NO EVENT SHALL Pacific Biosciences BE LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, PUNITIVE, OR CONSEQUENTIAL DAMAGES OF ANY KIND WHATSOEVER WITH RESPECT TO THE IMAGES.

You agree that Pacific Biosciences may terminate your access to and use of the images located on the PacificBiosciences.com website at any time and without prior notice, if it considers you to have violated any of the terms of this Image Use Agreement. You agree to indemnify, defend and hold harmless Pacific Biosciences, its officers, directors, employees, agents, licensors, suppliers and any third party information providers to the Site from and against all losses, expenses, damages and costs, including reasonable attorneys' fees, resulting from any violation by you of the terms of this Image Use Agreement or Pacific Biosciences' termination of your access to or use of the Site. Termination will not affect Pacific Biosciences' rights or your obligations which accrued before the termination.

I have read and understand, and agree to, the Image Usage Agreement.

I disagree and would like to return to the Pacific Biosciences home page.

Pacific Biosciences
Contact:

Review: SMRT Sequencing ‘Is Revolutionizing’ Human Sequencing Applications

Wednesday, February 7, 2018

A new review in Nucleic Acids Research offers a sweeping look at human sequencing applications for SMRT Sequencing, finding that “[t]he myth that SMRT sequencing is too error prone … is being expunged and replaced by evidence that it offers advantages over short-read sequencers.”

The authors conclude with a prediction about the ultimate potential for SMRT Sequencing and other “third-generation” platforms: “Just as second-generation platforms stepped beyond Sanger sequencing and enabled a revolution in genomics medicine, third-generation single molecule sequencing platforms will likely be the next genetic diagnostic revolution.”

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics” written by Simon Ardui, Joris Vermeesch, and Matthew Hestand at KU Leuven and Adam Ameur at Uppsala University, offers a great overview of how SMRT Sequencing is being used to study a variety of clinically relevant conditions ranging from cancer to Mendelian disorders and more. The paper notes that SMRT Sequencing offers tremendous benefits because it resolves many problems with short-read platforms — “limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles.” In addition, SMRT Sequencing has “higher consensus accuracies and can detect epigenetic modifications from native DNA,” Ardui et al write.

“SMRT sequencing is opening up new … avenues, such as the ability to determine tandem repeat lengths, interruptions, and even epigenetics in a single test at base pair resolution,” the scientists report. “Long read sequencing is already considered the gold standard for some applications, such as for HLA genotyping,” the authors continue.

The review walks through many of those applications, offering prominent examples for each. Resolving tandem repeats, for example, is already important for Fragile X syndrome, spinocerebellar ataxia, and other repeat expansion disorders. “Unfortunately, sequencing those DNA elements is difficult with short-read platforms because the reads are too short to span most tandem repeats,” the scientists note, indicating that in the future SMRT Sequencing can be used to replace more “labour intensive and inaccurate methods” such as Southern blots for such applications. They also cover examples such as distinguishing pseudogenes, needed for CYP2D6 analysis for drug metabolism studies; identifying fusion genes relevant to therapy selection in cancer samples; and infectious disease analysis; among many others.

Looking ahead, the review cites data indicating that whole transcriptome and whole genome sequencing on the PacBio system will soon see regular use in human sequencing applications. Regarding the Iso-Seq method, “as costs drop and throughput increases, unbiased PacBio expression and isoform detection will become routine in the near future,” the scientists write. They also note that “SMRT sequencing is greatly expanding the utility of WGS, permitting a factor greater in assembly completeness … even nearing reference genome contig sizes and including diploid aware assemblies.”

PacBio products are intended for Research Use Only and not for use in diagnostic procedures.

Subscribe for blog updates:

Archives