Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions.
Booth hours:
I’m an optional line or two for additional copy. Could also be used for form validation messaging.
Book time with our experts on-site or get access to ASHG 2024 content including workshop recordings, posters, and more. All fields are required.
Friday, November 8 | 12:00 – 1:00 PM MST Colorado Convention Center, Level 3, Rooms 109-111-113
Explore the transformative impact of HiFi sequencing in rare disease research, with a focus on its potential integration into clinical practice and population genomics. Learn how scalable long-read sequencing from PacBio is revolutionizing diagnostic accuracy, enhancing insights into genetic disorders, and shaping the future of personalized medicine. The workshop will also highlight the role of HiFi sequencing in large-scale population studies, unveiling new possibilities for understanding genetic diversity and disease prevalence.
Our workshop is designed to foster engagement and collaboration, providing you with an opportunity to interact with leading experts in the field and explore the practical applications of HiFi sequencing in your own research endeavors. Box lunches will be provided for this session.
Date/Time: Thursday, November 7 | 8:05 – 8:20 AM MST
Location: Colorado Convention Center, Lower Level, Four Seasons Ballroom 4
Egor Dolzhenko, PhD
Principal Scientist, Bioinformatics, PacBio
Date/Time: Friday, November 8 | 10:45 – 11:00 AM MST
Location: Colorado Convention Center, Lower Level, Four Seasons Ballroom 4
Xiao Chen, PhD
Principal Scientist, Bioinformatics, PacBio
Date/Time: Wednesday, November 6 | 12:00 – 12:30 PM MST
Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2
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Learn how HiFi sequencing is unlocking the complexities of neuropsychiatric diseases by revealing novel RNA isoforms and underlying mechanisms. Discover the latest breakthroughs and methodologies driving new insights that could lead to better understanding and treatment of these conditions.
Michael Margolis
MSTP Genetics and Genomics PhD Program, UCLA
Ivan Iossifov, PhD
Professor, Cold Spring Harbor Laboratory
Date/Time: Wednesday, November 6 | 4:00 – 4:30 PM MST
Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2
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Explore how HiFi sequencing, combined with the new PureTarget kit, is helping to bridge the gap between research and clinical practice, enabling more accurate diagnostics and paving the way for innovative treatments. Join us to learn about the advancements in implementing HiFi sequencing in clinical settings and its potential to transform patient care for those affected by repeat expansion-related diseases.
Robert Thaenert, PhD
Associate Director, Science, Quest Diagnostics
Dale Muzzey, PhD
Chief Scientific Officer, Myriad Genetics
Date/Time: Thursday, November 7 | 4:00 – 4:30 PM MST
Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2
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Discover how HiFi sequencing is revolutionizing the path from diagnostics to drug discovery for genetic disorders. Discover how this technology enhances diagnostic accuracy and can help to accelerate the development of targeted therapies, offering new hope to families affected by these conditions.
Lisenka Vissers, PhD
Professor, Faculty of Medical Sciences, Radboud University Medical Center
Rodney Bowling, PhD
Chief Scientific Officer, EverLum Bio
Wednesday, November 6 – Friday, November 8
| ID | Title | First Author |
| 1109W | Best practices Terra workspace for processing PacBio long reads sequenced on Revio: single sample, trio, and cohort modes | Mark Fleharty, Broad Institute |
| 1113W | Clinical validation of a haplotyped whole genome sequencing assay using PacBio HiFi sequencing | David Corney, Azenta Life Sciences |
| 1180W | SVTopo: enhance complex structural variation analysis from highly accurate long reads with human-readable images | Jon Belyeu, PacBio |
| 3018W | High throughput phasing of HLA in a diverse ancestry set of individuals with high accuracy | Omar Cornejo, UC Santa Cruz |
| 1129T | Detection of repeat expansions with PureTarget | Mike Eberle, PacBio |
| 1184T | Using donor-specific assemblies as a benchmark for short- and long-read sequencing platform comparisons within the SMaHT network | Sean Mcgee, University of Washington |
| 1123F | Direct detection and counting of trinucleotide repeat expansion using CRISPR-Cas9 and PacBio HiFi sequencing | Bhaven Mehta, Azenta Life Sciences |
| 1138F | Improving transcriptome variant detection using PacBio isoform sequencing | Andrew Carroll, |
| 1143F | Long-read sequencing to help enable diagnoses in Mendelian diseases | Yulia Mostovoy, Massachusetts General Hospital |
| 1165F | Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling | Chris Saunders, PacBio |
| 4011F | Allele stacking for cohort-scale analysis of long-read sequencing to identify functional non-coding variants | David Yang, Albert Einstein College of Medicine |
| 7021F | StarPhase: comprehensive phase-aware pharmacogenomic diplotyper for long-read sequencing data | Matt Holt, PacBio |
Stop by our booth to chat with PacBio staff and get hands-on demonstrations of our sequencing systems. We are excited to answer your questions and explore tailored solutions for your research!
Booth hours:
Wednesday, November 6 – Friday, November 8
9:30 AM – 4:30 PM MST
Interested in getting a sequencing project started? Stop by our service providers to talk about project design and next steps.
Booth 211
Booth 212
Booth 213
Booth 214
