ASHG 2024 | Denver, CO

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Explore our ASHG program and preview how PacBio sequencing is revolutionizing human genomics research.

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Visit our booth or sign up to receive videos and other content we present at ASHG.

CONNECT

Request a personalized, one-on-one meeting with our team at ASHG.

Visit us at booth 401

Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions.


Booth hours:

  • November 2 | 9:30 AM – 5:00 PM EDT
  • November 3 | 10:00 AM – 5:00 PM EDT
  • November 4 | 10:00 AM – 4:30 PM EDT

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Book time with our experts on-site or get access to ASHG 2024 content including workshop recordings, posters, and more. All fields are required.

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WORKSHOP

A new era in rare disease research: integrating HiFi sequencing into clinical practice and population genomics

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.


 

Speakers

David Miller
Vice President, Global Marketing, PacBio
Carol Saunders, PhD, FACMG
Division Director, Clinical & Laboratory Genetics & Genomics, Children's Mercy Kansas City
Mike Eberle, PhD
Vice President, Computational Biology, PacBio
Mait Metspalu, PhD
Director, Institute of Genomics, University of Tartu




PRESENTATIONS

Featured Symposium: Profiling genetic and epigenetic variation in and around tandem repeat regions

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


Platform Talk: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

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

COLAB THEATER TALKS

CoLab #1: Unlocking the brain: harnessing PacBio HiFi sequencing to explore RNA isoforms and unveil neuropathological mechanisms

Date/Time: Wednesday, November 6 | 12:00 – 12:30 PM MST

Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2

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

CoLab #2: Bridging research and clinical practice: leveraging PacBio HiFi sequencing for detecting repeat expansions and advancing clinical implementation

Date/Time: Wednesday, November 6 | 4:00 – 4:30 PM MST

Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2

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

CoLab #3: From diagnostics to drug discovery: how HiFi sequencing helps bring new hope to families affected by genetic disorders

Date/Time: Thursday, November 7 | 4:00 – 4:30 PM MST

Location: Colorado Convention Center, Exhibit Hall, CoLab Theater #2

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

POSTER PRESENTATIONS

Wednesday, November 6 – Friday, November 8

  • All poster presentations will be in the Exhibit Hall, 2:30 – 4:30 PM. Letter in the ID denotes day of the week.

    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 
    1180W  SVTopo: enhance complex structural variation analysis from highly accurate long reads with human-readable images Jon Belyeu,
    PacBio 
    1129T  Detection of repeat expansions with PureTarget Mike Eberle,
    PacBio
    1138F  Improving transcriptome variant detection using PacBio isoform sequencing Andrew Carroll,
    Google 
    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

Visit us at booth #725

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

PacBio service providers

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

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