The poster and podium presentations will demonstrate how, by using the latest advances in SMRT Sequencing, it is now possible to conduct large cohort human genome sequencing studies to detect structural variants that are known to cause rare disease or contribute to common traits. These larger structural variants are now understood to be broadly missing from variant databases built with short-read DNA sequencing methods, and may account for a sizable fraction of the causative genetic variants underlying health and disease traits.
For example, a talk from customer Alexander Hoischen, Ph.D., of
PacBio will host a series of “Lightning Talks” in the company’s hospitality suite (
Tuesday, February 13, 8:30 a.m.
What’s New with the Sequel® System? More Data, Better Biology
Jonas Korlach, Ph.D., CSO Tuesday, February 13, 10:45 a.m.
PacBio® Long-Read WGS for Structural Variant Discovery
Aaron Wenger, Ph.D., Principal
Wednesday, February 14, 10:30 a.m.
No-Amp Targeted Enrichment & SMRT Sequencing of Repeat-Expansion Disease Causative Genomic Regions
Jonas Korlach, Ph.D., CSO
In a poster presentation entitled “Population-Scale Discovery of Structural Variants with PacBio SMRT Sequencing,”
Other posters and presentations will illustrate the usefulness of SMRT Sequencing data for full-length transcript profiling with the Iso-Seq® method, multiplexed microbial genome sequencing, agbio, and other applications.
“As we continue to enhance the throughput and performance of our Sequel System, it is exciting to see how this platform is powering new discoveries that were never possible with other sequencing technologies,” said
About Pacific Biosciences
novel genes; targeted sequencing to more comprehensively characterize genetic variations; and real-time kinetic information for epigenome characterization. Pacific Biosciences’ technology provides high accuracy, ultra-long reads, uniform coverage, and the ability to simultaneously detect epigenetic changes. PacBio® sequencing systems, including consumables and software, provide a simple, fast, end-to-end workflow for SMRT Sequencing. More information is available at www.pacb.com.
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