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Pacific Biosciences of California, Inc. Message Board

  • paulieme60 paulieme60 Dec 18, 2013 10:22 PM Flag

    December 18, 2013 | At the farthest reaches of the long arm of the X chromosome

    Fragile Expedition

    By Aaron Krol
    Awarded in September of this year, the grant will culminate in a 300-person trial of the fine-tuned test before UC Davis prepares it for clinical release. PacBio is closely involved in the project, which could establish a unique position for the company in clinical use at a time when the sequencing industry is scrambling to enter the clinical market. Illumina, the world’s largest sequencing company, recently received FDA approval for a cystic fibrosis diagnostic, a landmark in medical genetics. QIAGEN, a multibillion-dollar diagnostics company, is preparing to release the new GeneReader instrument specifically for clinical use.

    PacBio is smaller than either of these companies, but its SMRT sequencers are the only instruments that can access fragile X mutations. “We are right now in the business of facilitating sequencing that can’t be done using other techniques,” Turner, who is also principal investigator for the NIH grant, told Bio-IT World. “The longest read length of any technology other than PacBio is about one thousand bases, so they’re far short of being able to cover [the range of FMR1 mutations].”

    Two aspects of SMRT technology – the acronym stands for single molecule, real time – give PacBio the coverage needed to delve into the black boxes of the genome. The first is a DNA polymerase engineered from the f29 bacteriophage. Bacteriophages, viruses that invade bacteria and replicate inside their hosts, use polymerases to copy their genetic sequences. The f29 phage is remarkable for replicating its entire, nearly 20,000-base genome in a single step, using just one enzyme. Armed with this highly accurate, long-reading polymerase, a SMRT sequencer can chew through thousands of bases using just one enzyme and one molecule of sample DNA. (Go to IHUB for full story & link)

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