ACMG 2023
March 14–18, 2023
Salt Palace Convention Center, Salt Lake City, UT
We look forward to seeing you at ACMG 2023! Join us to find out how new technology from PacBio can help fuel discovery in human genetics research.
Complete the form on this page to request a meeting with us at ACMG and receive a recording of the Exhibit Theater Workshop after the event. To thank you for speaking with us, you will receive a special ecofriendly gift when you attend your scheduled meeting.
In the meantime, see below and refer back to this page for more on our workshop, poster presentations, and other details about PacBio at ACMG 2023.
Request meeting and workshop recording
PacBio is changing the game of genomics with scalable and affordable, highly accurate long-reads from the Revio system. PacBio HiFi reads robustly detect the full spectrum of variation, moving beyond the limitations of other genomics technologies. In this workshop, speakers will share how HiFi sequencing can be applied to solve important clinical research problems such as fully resolving genes that lie within segmental duplications like SMN1/2 and detecting full-length repeat expansions.
Thursday, March 16, 2023, 11:55 AM - 12:25 PM PST
Exhibit Theater 1
Attend the exhibit theater workshop for your chance to win a special giveaway item
Edd Lee
Director, Human Genomics Marketing
PacBio
Mike Eberle, PhD
Vice President, Computational Biology,
PacBio
Authors: Jacob Brandenburg, Aaron Wenger, Christine Lambert, Heather Ferrao
Jacob Brandenburg, Senior Specialist, Segment Marketing, PacBio
Long-read whole genome sequencing (WGS) for plants and animals has allowed scientists to tackle the assembly of genomes ranging in size, ploidy, and repeat content. HiFi WGS enables complete, accurate, and contiguous assemblies of even the most complex genomes. As a result, HiFi WGS has been adopted by many biodiversity genomics consortia and agriculture researchers to assemble thousands of genomes. While HiFi WGS simplifies the bioinformatics of genome assembly, library preparation remains a common challenge, especially for scientists sequencing organisms which yield low quantities of DNA or have very large genomes that require multiple libraries for a single de novo assembly. We describe a new workflow using the PacBio SMRTbell Prep Kit 3.0 that is amenable to automation while significantly reducing the time (by 50%), cost, and DNA quantity (by 40%) necessary to prepare a sequencing library. We applied the workflow to rice and fly samples and demonstrate that the assembly quality matches that of the previous, more time-consuming library prep workflows. This new workflow offers a more efficient solution for all WGS applications, regardless of organism size or complexity.
Authors: Greg Concepcion, Michelle Vierra
Greg Concepcion, Staff Engineer, Bioinformatics, PacBio
With the increasing prevalence of high-quality assembled genomes, access to the pangenomes of species is now an achievable possibility for researchers with all research budgets. However, the tools to visualize, analyze, and extract actionable information from these pangenome datasets are still in their infancy. Using a large plant pangenome dataset, we evaluated the pangenome graph builder pipeline for building a pangenome graph of the species and use these evaluations to provide basic recommendations for how to best manipulate and visualize these pangenomic datasets with other downstream tools including the vg toolkit.
Presenter name, title, credentials, Presenter name, title, credentials
Presenter name, title, credentials, Presenter name, title, credentials
Monday, October XX X:00 pm PST
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Presenter name, title, credentials, Presenter name, title, credentials
Presenter name, title, credentials, Presenter name, title, credentials
| # | Title | First Author |
| P146 | Complete Resolution of Genes with Highly Homologous Gene Family Members or Pseudogenes Using Long-read PacBio HiFi Sequencing Rapid fire poster session: Thursday March 16, 12:45 - 1:15, Learning Lounge |
X. Chen |
| P592 | HiFi reads provide accurate detection of variants and DNA methylation in challenging regions of the genome | G. Young |
| P472 | Highly Scalable Pharmacogenomic Panel Testing with Hybrid Capture and Long-Read Sequencing | N. Gonzaludo |
| P478 | Simultaneous Analysis of 50+ Different Repeat Expansions with Twist Target Enrichment and PacBio HiFi Sequencing | T. Han |
Stop by our booth to chat with PacBio staff, get all your questions answered, and demo our new Revio and Onso sequencing systems live!
Exhibit hours:
