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Thursday, April 30, 2015

In Study, Continuous Long Reads Outperform Synthetic Long Reads for Resolving Tandem Repeats

Scientists from Argentina and Brazil published the results of a study comparing long-read approaches to characterize the genome structure of a highly complex region of the Y chromosome in Drosophila melanogaster. They found that Single Molecule, Real-Time (SMRT®) Sequencing outperformed synthetic long reads in accurately representing tandem repeats. The study aimed to resolve the structure of the autosomal gene Mst77F, which had previously been found to have multiple tandem copies; the region, however, was known to be grossly misassembled in the reference. The scientists, from Centro Internacional Franco Argentino de Ciencias de la Información y de Sistemas and Universidade Federal…

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Monday, April 27, 2015

New Solutions for Comprehensive and Efficient Targeted Sequencing and Multiplexing of Samples

We are proud to announce the introduction of several new solutions for targeted sequencing and sample multiplexing on the PacBio® Sequencing System. New Targeted Sequencing Workflow through Collaboration with Roche NimbleGen Today we announced a new workflow that combines Roche NimbleGen’s SeqCap EZ enrichment technology with large DNA fragments (up to 6 kb) and our Single Molecule, Real-Time (SMRT®) Sequencing to provide a more comprehensive view of variants, transgene integration sites, and haplotype information over multi-kilobase contiguous regions. The laboratory workflow is described in a shared protocol. For each targeted region, SAMtools are used to phase and bin reads by…

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Friday, April 24, 2015

On DNA Day, Celebrating New Firsts

Hooray for DNA!  We’re excited to celebrate this day as it it honors two major accomplishments in the field: the 1953 publication of the structure of DNA, and the 2003 completion of the Human Genome Project. With the amount of attention DNA has received in the past century, it is hard to believe that in some ways we are still just getting acquainted with the molecule. Here at PacBio, we are proud to be helping life sciences researchers achieve new firsts with DNA. Because it does not use amplification, our Single Molecule, Real-Time (SMRT®) Sequencing platform provides the purest view…

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Friday, April 17, 2015

AACR 2015: A Novel Look at Cancer, and a New SMRT Sequencing Grant Program

We’re looking forward to the annual meeting of the American Association for Cancer Research, which kicks off this weekend in Philadelphia. From directly phasing variants to sequencing full-length gene isoforms and other complex events, many scientists are already using SMRT® Sequencing to make exciting discoveries in cancer research. We hear from customers that the single-molecule approach opens the door for experiments they could not have done any other way. If you’ll be at AACR, we encourage you to attend the talk from UCSF’s Catherine Smith on Monday at 10:40 a.m. in room 201. Her presentation, “Polyclonal and heterogeneous resistance to…

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Wednesday, April 15, 2015

In Genome-wide Study, Long Reads Prove Critical for Structural Variant Discovery

In a paper just published in BMC Genomics, a team of scientists led by Baylor’s Human Genome Sequencing Center reports a thorough analysis of structural variation in a personal genome. What makes this study special is the large number of different technologies applied and the sheer volume of data gathered and analyzed for this single genome. The paper also includes the first known analysis of structural variation in a diploid human genome using SMRT® Sequencing, with 10x coverage from PacBio® long reads. Lead authors Adam English and William Salerno and their collaborators at a number of institutions describe the results…

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