Pacific Biosciences Delivers Enhanced DNA Sequencing Chemistry and Software to Help Solve Complex Genetic Problems

Posted: Published on November 7th, 2012

This post was added by Dr Simmons

MENLO PARK, Calif., Nov. 6, 2012 (GLOBE NEWSWIRE) -- Pacific Biosciences of California, Inc. (PACB) provider of the PacBio(R)RS High Resolution Genetic Analyzer, today announced the latest enhancements to its DNA sequencing system, the XL release featuring new chemistry and software for extraordinarily long read lengths that average 5,000 bases.

Pacific Biosciences' Single Molecule, Real-Time (SMRT(R)) sequencing generates reads an order of magnitude longer than other leading DNA sequencing technologies. With the latest advance, the average read length increases 67 percent from 3,000 to 5,000 bases, with some reads as long as 20,000 bases. Long reads are critical for resolving genetic complexity in applications such as the assembly and finishing of genomes, phasing genomic variation over long distances, understanding human nucleotide repeat disorders, and resolving the structure of alternatively spliced transcripts.

The new XL release provides increased read lengths through a combination of chemistry and software. The new chemistry includes a faster polymerase that reads more bases per second. This release also includes the Stage Start feature, which produces longer reads by enabling sequence data collection to begin when the polymerase is activated. Additionally, PacBio has increased the length of time the instrument can record data during the sequencing reaction, also contributing to an increase in read lengths.

"The XL release is an enhancement to our existing C2 chemistry to address applications that require the longest reads, like de novo assembly," said Dr. Jonas Korlach, Chief Scientific Officer of Pacific Biosciences. "A unique characteristic of our SMRT sequencing technology is the ability to tune the experimental design to maximize results for the project's application and goals. Through this flexibility and our continued performance enhancements, our customers can carry out their current research projects more efficiently, and engage in new applications to help resolve very complex genomes and transcriptomes."

The utility of the latest upgrade was demonstrated by scientists at Cold Spring Harbor Laboratory who were trying to assemble the complex rice genome. The new chemistry produced 9x coverage with long reads -- 50% of the data came from reads 4,800 base pairs or longer. Commenting on the results, Assistant Professor Dr. Mike Schatz at Cold Spring Harbor said, "Adding the long reads from PacBio doubled the contig connectivity over the current state-of-the-art ALLPATHS-LG assembler and mate-pair recommendations."

Dr. Korlach will discuss the latest enhancements to the PacBio RS in a workshop at the American Society for Human Genetics (ASHG) Annual Meeting in San Francisco on November 8 at 12:45 p.m. Also speaking to share their successes using the PacBio RS are customers Dr. Paul Hagerman from UC Davis School of Medicine ("Sequencing the Unsequenceable: Expanded CGG-repeat Alleles of the Fragile X Gene"), Dr. Hagen Tilgner, Stanford University Department of Genetics ("Eukaryotic Transcriptome Analysis Using PacBio"), and Dr. David Witherspoon, University of Utah Department of Human Genetics Sequencing ("Mobile-Element Scanning (ME-Scan) of Active LINE-1 Elements in Humans using Single Molecule, Real-Time (SMRT) Sequencing").

Attendees at the ASHG Annual Meeting can visit any of the workshop sessions taking place from 12:45-2:15 p.m. and visit the PacBio booth (#610). Those not attending the meeting can register to view recordings of the workshop sessions on the company's website. For more information, please visit http://www.pacb.com.

About Pacific Biosciences

Pacific Biosciences of California, Inc. (PACB) offers the PacBio(R)RS High Resolution Genetic Analyzer to help scientists solve genetically complex problems. Based on its novel Single Molecule, Real-Time (SMRT(R)) technology, the company's products enable: targeted sequencing to more comprehensively characterize genetic variations; de novo genome assembly to more fully identify, annotate and decipher genomic structures; and DNA base modification identification to help characterize epigenetic regulation and DNA damage. By providing access to information that was previously inaccessible, Pacific Biosciences enables scientists to increase their understanding of biological systems.

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Pacific Biosciences Delivers Enhanced DNA Sequencing Chemistry and Software to Help Solve Complex Genetic Problems

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