POPGEN FORUM

A Global Perspective: Strategic Insights into Planning Population genetics and precision health research

2-3 April 2024

Hyatt Regency Bangkok Sukhumvit, Thailand

RARE DISEASE RESEARCH

Achieve robust coverage across challenging and repeat-rich regions, phase haplotypes and get a clear view of epigenetic events.

PANGENOME REFERENCE

Create reference genomes with high completeness, correctness, and contiguity, enabling more genomic diversity and accurate genetic insights.

GLOBAL INSIGHTS

Learn from experts around the globe about their perspectives and ongoing work in the field.

POPGen Forum

The POPGen Forum - "Strategic Insights into Planning Population Genetics and Precision Health Research: A Global Perspective," is dedicated to exploring the pivotal role of population genetics in addressing rare diseases, precision health, new therapeutics, and the advancement of pan-reference genome research. Our goal is to foster collaboration and knowledge exchange among diverse stakeholders.

Also join us to discover how HiFi sequencing offers flexible genome coverage options and targeted solutions, enabling you to maximize the output of your research budget, while implementing the optimal HiFi coverage for population-wide to individual-level insights.

RSVP TO SAVE YOUR SEAT

Please RSVP by 27 March 2024.

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SCHEDULE OF EVENTS

Hyatt Regency Bangkok Sukhumvit, Thailand


Arrival

Monday, 1 April 2024, 7:00 PM onwards

Agenda

7:00 PM onwards - Welcome Reception at Sukhumvit Gallery Market Café (Level 4)

 

SCHEDULE OF EVENTS

Hyatt Regency Bangkok Sukhumvit, Thailand


DAY 1

Tuesday, 2 April 2024, 8:30 AM – 9:00 PM

Agenda

8:30 - 9:00 AM - Registration & Welcome Coffee
9:00 - 9:15 AM

The Next Chapter in Genomic Discovery is Here


Tanya Boyaniwsky
Chief of Staff
PacBio
9:15 - 9:45 AM

Shifting Paradigms with PacBio HiFi sequencing


Jonas Korlach, PhD
Co-Founder
PacBio

Session I: Global Perspectives on Population Genetics Projects

9:45 - 10:25 AM

Precision Health in Thailand: Genomics as a Catalyst for Transformation


Dr. Surakameth Mahasirimongkol
Director/Physician
Medical Life Sciences Institute, DMSc, Ministry of Public health, Thailand
10:25 - 11:05 AM

Revolutionizing Personalized Medicine: Insights from the All of Us Initiative's Long-Read Sequencing Pilot


Kiran Garimella, M.S., D.Phil
Director of Computational Biology, Data Sciences Platform
Broad Institute of MIT and Harvard

11:05 - 11:45 AM

Challenges and Opportunities of the National Human Genome Projects in South Korea


Dr. Jongbum Jeon
Senior Researcher
Korea Bioinformation Center (KOBIC), Korea Research Institute of Bioscience & Biotechnology (KRIBB)

11:45 AM - 12:25 PM

Managing Genetic Diversity in the Chinese Population: Challenges and Solutions


Prof. Shuhua Xu, PhD
Professor of Population Genetics & Principal Investigator of Population Omics Group
Fudan University

12:25 – 1:25 PM - Lunch

Session II: Innovations in Genomics and Therapeutic Discoveries


1:25 - 2:05 PM

Leveraging molecular data to understand cardiovascular and metabolic health in Asia: Insights and Therapeutic opportunities


Prof. John Chambers, PhD
Chief Scientific Officer
Precision Health Research, Singapore (PRECISE)

2:05 - 2:45 PM

Human Gut Microbiome in Precision Health Planning: Bridging Research to Clinical Practice


Prof. Jeremy Lim
CEO and Co-Founder
Asian Microbiome Library (AMILI )

2:45 - 3:25 PM

Deep Translational Insights for Asian Patients: Advancing Drug Discovery with Ethnically Balanced Data Science


Yvanka Gilliam, PharmD
Founder and CEO
Clinical Research Advancement

3:25 - 3:55 PM - Coffee Break

3:55 - 4:55 PM - Day 1 Panel Discussion
Jonas Korlach, PhD
Co-Founder
PacBio

4:55 PM onwards - Networking Reception

7:00 PM onwards - Dinner at Spectrum (Level 31)

 

SCHEDULE OF EVENTS

Hyatt Regency Bangkok Sukhumvit, Thailand


DAY 2

Wednesday, 3 April 2024, 8:30 AM – 2:00 PM

Agenda

8:30 - 9:00 AM - Morning Coffee

Session III: Integrative Approach to Genomic Data and Clinical Practice


9:00 - 9:40 AM

Long-read DNA sequencing for rare diseases


Prof. Vorasuk Shotelersuk, PhD
Director of Centre of Excellence for Medical Genomics, Faculty of Medicine
Chulalongkorn University

9:40 - 10:20 AM

Shaping the Future of Rare Disease Management in Europe: Leveraging Large-Scale Datasets for Insights and Innovations


Prof. Christian Gilissen, PhD
Professor of Genome Bioinformatics (Human Genetics)
Radboud University Medical Centre

10:20 - 11:00 AM

The Use of High-throughput Long-Read Whole Genome Sequencing for Diagnosing Rare Genetic Disorders in Japan


Prof. Tomoo Ogi, D.Sci.
Professor of Genetics (Human Genetics and Molecular Biology)
Research Institute of Environmental Medicine (RIeM), Nagoya University, Japan

11:00 - 11:40 AM

Decoding the Unseen: Computational Biology's Role in Unraveling Rare Disease Mysteries


Michael Eberle, PhD
Vice President of Computational Biology
PacBio

11:40 AM - 12:00 PM - Coffee Break

Session IV: APAC Collaborations and Innovations


12:00 – 12:30 PM

Unifying Asian Genomic Diversity: The Asia Pangenome Approach


Prof. Shuhua Xu, PhD
Professor of Population Genetics & Principal Investigator of Population Omics Group
Fudan University
12:30 - 1:15 PM - Day 2 Panel Discussion
Jonas Korlach, PhD
Co-Founder
PacBio

1:15 - 1:30 PM - Closing Remarks
Jason Kang, PhD
Vice President & General Manager
PacBio APAC

1:30 PM onwards - Lunch

Plenary talks

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 workgow 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 workgows. This new workflow offers a more efficient solution for all WGS applications, regardless of organism size or complexity.

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.

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.

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.

Presentations

Monday, June 12, 2022 14:15–15:45 PST

Awesome and potentially long title of talk goes here

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Elizabeth Tseng, PhD

Title, credentials, PacBio

Elizabeth Tseng, PhD

Title, credentials, PacBio

Elizabeth Tseng, PhD

Title, credentials, PacBio

Elizabeth Tseng, PhD

Title, credentials, PacBio

Presentations + posters

  • Poster presentations

    # Title First Author Date/Time
    2314 Increased Diagnostic Yield With Long Read Sequencing In Patients With Undiagnosed Neurodevelopmental Disorder S. Jamuar October 26, 3:00 - 4:45 pm PDT
    2322 Long-read HiFi genome sequencing reveals a 2.7 kilobase intronic insertion in NR5A1as a cause of 46,XY disorder of sexual development G. Del Gobbo October 26, 3:00 - 4:45 pm PDT
    2354 Ultra-low DNA input with long-read sequencing identified complex chromosomal rearrangements involving NIPBL in a Cornelia de Lange syndrome patient N. Jiang October 26, 3:00 - 4:45 pm PDT
    2723 Accurate CYP2D6 star (*) allele diplotyping for long-read PacBio HiFi sequencing J. Harting October 26, 3:00 - 4:45 pm PDT
    3096 PacBio HiFi sequencing provides highly accurate CpG methylation calls without bisulfite treatment C. Saunders October 26, 3:00 - 4:45 pm PDT
    3133 Sequencing By Binding (SBB) enables a lower limit of detection for Tuberculosis resistance genes gyrA and katG C. Wike October 26, 3:00 - 4:45 pm PDT
    2269 Clinical long-read genome sequencing: Analytical performance of germline small variant detection using HiFi genome sequencing N. Hammond October 27, 3:00 - 4:45 pm PDT
    2954 De novo variant detection with HiFi reads J. Lake October 27, 3:00 - 4:45 pm PDT
    3012 High throughput workflow for human whole genome sequencing using PacBio HiFi J. Rocha October 27, 3:00 - 4:45 pm PDT
    3132 Sequencing By Binding (SBB) demonstrates superior performance in low-pass whole-human-sequencing applications KY. Chen October 27, 3:00 - 4:45 pm PDT
    2938 Closing the gap: Solving complex medically relevant regions of the human genome F. Sedlazeck October 27, 3:00 - 4:45 pm PDT

  • In-booth presentations

    # Title First Author Date/Time
    2314 Increased Diagnostic Yield With Long Read Sequencing In Patients With Undiagnosed Neurodevelopmental Disorder S. Jamuar October 26, 3:00 - 4:45 pm PDT
    2322 Long-read HiFi genome sequencing reveals a 2.7 kilobase intronic insertion in NR5A1as a cause of 46,XY disorder of sexual development G. Del Gobbo October 26, 3:00 - 4:45 pm PDT
    2354 Ultra-low DNA input with long-read sequencing identified complex chromosomal rearrangements involving NIPBL in a Cornelia de Lange syndrome patient N. Jiang October 26, 3:00 - 4:45 pm PDT
    2723 Accurate CYP2D6 star (*) allele diplotyping for long-read PacBio HiFi sequencing J. Harting October 26, 3:00 - 4:45 pm PDT
    3096 PacBio HiFi sequencing provides highly accurate CpG methylation calls without bisulfite treatment C. Saunders October 26, 3:00 - 4:45 pm PDT
    3133 Sequencing By Binding (SBB) enables a lower limit of detection for Tuberculosis resistance genes gyrA and katG C. Wike October 26, 3:00 - 4:45 pm PDT
    2269 Clinical long-read genome sequencing: Analytical performance of germline small variant detection using HiFi genome sequencing N. Hammond October 27, 3:00 - 4:45 pm PDT
    2954 De novo variant detection with HiFi reads J. Lake October 27, 3:00 - 4:45 pm PDT
    3012 High throughput workflow for human whole genome sequencing using PacBio HiFi J. Rocha October 27, 3:00 - 4:45 pm PDT
    3132 Sequencing By Binding (SBB) demonstrates superior performance in low-pass whole-human-sequencing applications KY. Chen October 27, 3:00 - 4:45 pm PDT
    2938 Closing the gap: Solving complex medically relevant regions of the human genome F. Sedlazeck October 27, 3:00 - 4:45 pm PDT

Visit us at booth X5-364

Stop by our booth to chat with PacBio staff and have your questions answered. We are excited to learn about your sequencing goals and learn more about your research.

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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Get In Touch

Speak to a sequencing specialist
Contact us
Talk about a collaboration
Collaborate with us

Get In Touch

Get in touch with us about a thing
Have at it