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

Monday, October 7, 2013

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 several speakers who will share their experience using SMRT Sequencing on human genomes. Here is the speaker lineup:

•    Evan Eichler, Ph.D., University of Washington: Reconstructing Complex Regions of Genomes Using   Long-Read Sequencing Technology
•    Ali Bashir, Ph.D., Mt. Sinai School of Medicine: Highlighting Unexplored Genomic Regions with SMRT Sequencing
•    Swati Ranade, Ph.D., Pacific Biosciences: Targeting Complex Structural Motifs in Genes and Haplotypes with Long-Read SMRT Sequencing

Register to attend the workshop or if you’re not attending ASHG this year, sign up to receive a recording of the workshop. There will also be several talks during ASHG sessions featuring SMRT Sequencing. We encourage you to attend for a great perspective on how long-read sequence data is transforming the way in which scientists are studying the human genome. 


•    Megan Y. Dennis, University of Washington: Palindromic GOLGA core duplicon promotes 15q13.3 microdeletion, inversion polymorphisms, and large-scale primate structural variation. Wednesday, 2:15 p.m., Westin Boston Waterfront Hotel, Grand Ballroom AB.

•    Dan Geraghty, Fred Hutchinson Cancer Research Center: Complete resequencing of extended genomic regions using fosmid targeting and PacBio’s Single Molecule Real-Time (SMRT®) long-read sequencing technology. Thursday, 2:45 p.m., BCEC Room 210.

•    Ayal Hendel, Stanford University: Sensitive and quantitative measurement of nuclease-mediated genome editing at human endogenous loci using SMRT sequencing. Thursday, 3:15 p.m., BCEC Room 210.

•    Paul J. Hagerman. UC Davis School of Medicine: Mechanisms of pathogenesis in fragile X-associated disorders. Saturday, 10:00 a.m., BCEC Room 205.

And of course the PacBio team will be available to answer any questions about our sequencing platforms, numerous applications, and more. Visit us at exhibit hall booth #806.

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