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Tuesday, October 22, 2013

Data Release: Long-Read Shotgun Sequencing of a Human Genome

In order to help evaluate the utility of long, unbiased sequence reads for characterizing structural variation in the human genome using our recently released P5-C3 scaffolding sequencing chemistry, we have collected 10x long-read, shotgun coverage of a human genome sample. The human genome harbors many structural variations, including variable number tandem repeats, deletions, insertions, inversions, and repetitive mobile elements, which are often difficult to resolve using short-read technologies. We hope this data set will be of value to the bioinformatic and scientific community studying various forms of structural variation across the human genome. To access the full data set, simply…

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Thursday, October 17, 2013

Stanford Team Finds Novel Transcripts Using Long-Read Isoform Sequencing

An advance online publication in Nature Biotechnology from Michael Snyder’s lab at Stanford University demonstrates the utility of long-read sequencing for assessing transcribed regions across the human genome. Long PacBio reads were able to completely cover full-length RNA molecules, characterizing genetic regions that have not been previously annotated. The paper, entitled “A single-molecule long-read survey of the human transcriptome,” reports the application of Single Molecule, Real-Time (SMRT®) Sequencing to studying RNA, comparing it to results from libraries sequenced with a 454® instrument. The scientists sequenced cDNA synthesized from pooled RNA gathered from 20 human organs and tissues in order to…

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Wednesday, October 9, 2013

Resolving Complex Regions in the Human Genome: SMRT Sequencing Fills Major Mucin Gap

Scientists from University of North Carolina at Chapel Hill, Duke University, and other institutions have teamed up to sequence an important region of the human genome that has until now proven impenetrable. In a paper entitled “Genome Reference and Sequence Variation in the Large Repetitive Central Exon of Human MUC5AC,” published in the American Journal of Respiratory Cell and Molecular Biology, corresponding authors Wanda O’Neal and Judith Voynow along with their collaborators describe the use of Single Molecule, Real-Time (SMRT®) Sequencing to characterize a complex mucin exon. MUC5AC, located on the P arm of chromosome 11, encodes one of the…

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Monday, October 7, 2013

Characterizing Structural Variation in the Human Genome: ASHG 2013 Workshop and Presentations

We are excited to participate in the annual American Society of Human Genetics meeting again this year on October 22-26 in Boston, MA. With so many new PacBio® technology advances since last year, we wanted to give you a preview of how users are applying SMRT® Sequencing to better elucidate a variety of complex regions in the human genome. On Thursday, October 24, we’ll be hosting a luncheon workshop from 12:30 p.m. to 2:00 p.m. entitled ‘Characterizing Structural Variation in the Human Genome Using Long-Read SMRT Sequencing.’ Join us in room 152 of the convention center (BCEC) to hear from…

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Thursday, October 3, 2013

New Chemistry for PacBio RS II Provides Average 8.5 kb Read Lengths for Complex Genome Studies

Our R&D team has been focusing on chemistry improvements for the PacBio® RS II sequencer and today we are pleased to announce our newest reagent combination, the P5 DNA polymerase with C3 chemistry (P5-C3). Together, they extend our industry-leading sequencing read lengths to an average of approximately 8.5 kb, with the longest reads exceeding 30,000 bases. The new chemistry includes photo-protected dyes to shield the P5 polymerase from laser-induced damage. With this new protection, the sequencing polymerase is able to generate much longer reads from a single DNA-template molecule.  Our previously released chemistry, P4-C2, has been successfully used by many…

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