ACMG 2024

March 12–16, 2024
Metro Toronto Convention Centre - Booth #1310

The future of genomics is BRIGHT

ACMG 2024 is where innovation meets application. We’re thrilled to invite you – the trailblazers and the curious minds – to experience the latest technology that can amplify your impact on medical genetics.

Join us as we uncover solutions with the precision that can reshape the landscape of genomic sequencing.

The future isn’t just bright; it’s shining, and we can’t wait to navigate it with you. 

What can you expect from PacBio at ACMG?

  • Learn about our technology in person: Check out how your research may benefit from the Revio system, and learn how it's setting new standards for affordability and accuracy in HiFi sequencing.
  • Be the first to know: Hear about hot-off-the-press applications and explore the newest solutions for RNA research with full-length, isoform-level resolution.
  • Expert Insights: Hear from our specialists and industry leaders about advances in genomics that are transforming research and paving the way toward potential clinical applications.

Don't forget to check out the CHEO Presentation: “Long-read genome sequencing in unsolved rare genetic diseases: preliminary experiences from the Care4Rare Canada Consortium” – March 15th, 1:30 pm – 1:45 pm

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Revolutionizing repeat expansion detection and clinical genomics research with long and accurate HiFi reads

At PacBio, our scalable, affordable, and highly accurate long-read sequencing systems enable researchers to answer the most challenging questions from the genome to the multiome. In this workshop, speakers will show how PacBio HiFi reads robustly detect the spectrum of genomic variation, driving translational and clinical research discoveries. Learn about exciting updates in repeat expansion detection and hear how customers are leveraging HiFi reads for more routine clinical research.

Thursday, March 14, 2024, 10:45 AM - 11:15 AM EST
Exhibit Theater 1


Robert Thaenert

Robert Thaenert
Senior Scientist
Quest Diagnostics

Sarah Kingan, PhD

Sarah Kingan, PhD
Associate Director, Product Manager

Pacbio Poster Presentations

Scalable PacBio HiFi Library Prep for High-Quality Genome Assemblies

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. 

An Evaluation of Bioinformatics Tools for HiFi Plant Pangenomes

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.

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Pacbio colab talk

Monday, October XX X:00 pm PST

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Odd number poster presentations are scheduled for Thursday, March 14 from 10:30 AM–12:00 PM EST.
Even number poster presentations are scheduled for Friday, March 15 from 10:30 AM–12:00 PM EST.
# Title First Author
P223 Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe Platform F. Fuligini
P600 pb-StarPhase: A phase-aware pharmacogenomic diplotyper for long-read sequencing data J. Holt
P709 Synchronized long-read genome, methylome, epigenome, and transcriptome analysis for a putative small fiber peripheral polyneuropathy research study M. Glanz
P819 Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing X. Chen


Stop by our booth to chat with PacBio staff, and get all your questions answered. Plus, you will get a limited edition prize!

Follow along @pacbio and #ACMGMtg24 on Twitter for exciting event updates!