Uploaded November 2024 | Updated September 2026, 1 day ago
Welcome to our 2024 ASHG workshop! In this session, our speakers introduce a new era in rare disease research, powered by advancements in HiFi long-read sequencing technology. From innovative product releases to groundbreaking real-world applications in clinical and population genomics, this workshop covers how PacBio is shaping the future of genomics research. Join us to explore the impact of tools like Revio and our new benchtop Vega sequencer, and how they empower clinicians, researchers, and biobanks worldwide to push the boundaries of discovery.
0:00 - Dave Miller, Vice President, Global Marketing, PacBio
A new era in rare disease research: integrating HiFi sequencing into clinical practice and population genomics
Dave Miller opens the workshop by introducing recent advancements from PacBio in rare disease research. He highlights major product launches and innovations from the past year, including the new Vega benchtop sequencing system, which is designed to make HiFi sequencing more accessible to a broader audience. Vega, a compact, user-friendly instrument, provides high-quality, long-read sequencing with a reduced setup, allowing for a variety of applications, from targeted sequencing to human genome sequencing. Miller emphasizes how the PacBio mission and latest offerings, including Vega, are advancing the field of genomics and enabling impactful research.
16:53 - Michael A Eberle, PhD, VP, Computational Biology, PacBio
Building the tools for a complete human genome
Mike Eberle presents a comprehensive overview of the PacBio whole genome sequencing pipeline and variant-calling improvements. He details how benchmarking with the Platinum Pedigree project and partnerships with groups like Google have enhanced variant-calling accuracy. Eberle emphasizes new variant callers for complex genomic regions and the move towards using HiFi data to expand clinical relevance in genomics.
31:39 - Carol Saunders, PhD., FACMG, Division Director, Clinical & Laboratory Genetics & Genomics, Children's Mercy Kansas City
Clinical HiFi Sequencing at Children's Mercy: One Year In
Carol Saunders from Kansas City Children's Mercy shares her team’s experience using HiFi sequencing to improve rare disease research and its impact on enabling diagnosis. She highlights the benefits of consolidating multiple genetic tests into a single, efficient long-read sequencing test, which can enable faster, more accurate diagnoses. Saunders presents case studies showing the advantages of HiFi sequencing for complex cases and describes plans to extend this approach to oncology.
47:24 - Mait Metspalu, PhD, Director, Institute of Genomics, University of Tartu
Personalized medicine with PacBio long reads: experience from the Estonian Biobank
Mike Mespalu from the University of Tartu in Estonia discusses the country’s efforts to implement personalized medicine using polygenic risk scores. He outlines how Estonia’s Biobank, which includes genetic data for 20% of the population, provides a foundation for stratifying disease risks, including a new initiative for early breast cancer screening. Mespalu also compares PacBio and Nanopore sequencing technologies and explains Estonia's strategy to build a comprehensive reference panel for population genomics.
Learn more about Vega at pacb.com/vega
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
Welcome to our 2024 ASHG workshop! In this session, our speakers introduce a new era in rare disease research, powered by advancements in HiFi long-read sequencing technology. From innovative product releases to groundbreaking real-world applications in clinical and population genomics, this workshop covers how PacBio is shaping the future of genomics research. Join us to explore the impact of tools like Revio and our new benchtop Vega sequencer, and how they empower clinicians, researchers, and biobanks worldwide to push the boundaries of discovery.
0:00 - Dave Miller, Vice President, Global Marketing, PacBio
A new era in rare disease research: integrating HiFi sequencing into clinical practice and population genomics
Dave Miller opens the workshop by introducing recent advancements from PacBio in rare disease research. He highlights major product launches and innovations from the past year, including the new Vega benchtop sequencing system, which is designed to make HiFi sequencing more accessible to a broader audience. Vega, a compact, user-friendly instrument, provides high-quality, long-read sequencing with a reduced setup, allowing for a variety of applications, from targeted sequencing to human genome sequencing. Miller emphasizes how the PacBio mission and latest offerings, including Vega, are advancing the field of genomics and enabling impactful research.
16:53 - Michael A Eberle, PhD, VP, Computational Biology, PacBio
Building the tools for a complete human genome
Mike Eberle presents a comprehensive overview of the PacBio whole genome sequencing pipeline and variant-calling improvements. He details how benchmarking with the Platinum Pedigree project and partnerships with groups like Google have enhanced variant-calling accuracy. Eberle emphasizes new variant callers for complex genomic regions and the move towards using HiFi data to expand clinical relevance in genomics.
31:39 - Carol Saunders, PhD., FACMG, Division Director, Clinical & Laboratory Genetics & Genomics, Children's Mercy Kansas City
Clinical HiFi Sequencing at Children's Mercy: One Year In
Carol Saunders from Kansas City Children's Mercy shares her team’s experience using HiFi sequencing to improve rare disease research and its impact on enabling diagnosis. She highlights the benefits of consolidating multiple genetic tests into a single, efficient long-read sequencing test, which can enable faster, more accurate diagnoses. Saunders presents case studies showing the advantages of HiFi sequencing for complex cases and describes plans to extend this approach to oncology.
47:24 - Mait Metspalu, PhD, Director, Institute of Genomics, University of Tartu
Personalized medicine with PacBio long reads: experience from the Estonian Biobank
Mike Mespalu from the University of Tartu in Estonia discusses the country’s efforts to implement personalized medicine using polygenic risk scores. He outlines how Estonia’s Biobank, which includes genetic data for 20% of the population, provides a foundation for stratifying disease risks, including a new initiative for early breast cancer screening. Mespalu also compares PacBio and Nanopore sequencing technologies and explains Estonia's strategy to build a comprehensive reference panel for population genomics.
Learn more about Vega at pacb.com/vega
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
