Uploaded November 2025 | Updated September 2026, 44 minutes ago
*Learn from leading clinical research laboratories how they are validating and adopting PacBio HiFi long-read sequencing to consolidate multiple legacy assays and improve detection across variant types in clinical research.*
HiFi sequencing provides a comprehensive view of the genome, capturing variant classes from single nucleotide variants to large structural variants and methylation in a single workflow. This panel of experts from Myriad Genetics, GeneDx, Radboudumc, and Karolinska University Hospital share their direct experience moving this technology from evaluation into routine clinical research and laboratory workflows.
*What you’ll learn*
* How to consolidate multiple assays for carrier screening and repeat expansions into a single workflow.
* Key considerations for validation, including DNA extraction, automation, and bioinformatics.
* Strategies for scaling HiFi sequencing from reflex testing toward first-line use in clinical research for rare disease.
* The role of HiFi sequencing in resolving complex structural variants and challenging genes.
*Featured speakers*
* Dale Muzzey, PhD, Chief Scientific Officer (Myriad Genetics)
* Keith Nykamp, PhD, VP, Research & Innovation (GeneDx)
* Anna Lindstrand, MD, PhD, Director, Clinical Genetics Laboratory (Karolinska University Hospital)
* Lisenka Vissers, PhD, Professor of Translational Genomics (Radboudumc)
00:00 Introduction
02:05 HiFi sequencing technology update
13:28 Panelist introductions
17:15 Carrier screening with PureTarget
19:56 Validation considerations for high-throughput labs
23:45 Operational benefits of a single workflow
25:50 The future shift to WGS
27:40 Implementing first-line testing at Radboudumc
30:53 Scaling HiFi at a national level
34:35 The HiFi Solves consortium
42:25 Round robin: Impact of HiFi on the lab
45:58 Advice for lab directors
48:15 Q&A: Coverage depth for clinical WGS
53:25 Q&A: Analysis tools for STRs and paralogs
*Resources*
* Learn more about PacBio solutions for human genomics: pacb.com/applications/human-genomics
What is the biggest hurdle for your lab in adopting long-read sequencing? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#HiFiSequencing #ClinicalGenomics #LongReadSequencing
*Learn from leading clinical research laboratories how they are validating and adopting PacBio HiFi long-read sequencing to consolidate multiple legacy assays and improve detection across variant types in clinical research.*
HiFi sequencing provides a comprehensive view of the genome, capturing variant classes from single nucleotide variants to large structural variants and methylation in a single workflow. This panel of experts from Myriad Genetics, GeneDx, Radboudumc, and Karolinska University Hospital share their direct experience moving this technology from evaluation into routine clinical research and laboratory workflows.
*What you’ll learn*
* How to consolidate multiple assays for carrier screening and repeat expansions into a single workflow.
* Key considerations for validation, including DNA extraction, automation, and bioinformatics.
* Strategies for scaling HiFi sequencing from reflex testing toward first-line use in clinical research for rare disease.
* The role of HiFi sequencing in resolving complex structural variants and challenging genes.
*Featured speakers*
* Dale Muzzey, PhD, Chief Scientific Officer (Myriad Genetics)
* Keith Nykamp, PhD, VP, Research & Innovation (GeneDx)
* Anna Lindstrand, MD, PhD, Director, Clinical Genetics Laboratory (Karolinska University Hospital)
* Lisenka Vissers, PhD, Professor of Translational Genomics (Radboudumc)
00:00 Introduction
02:05 HiFi sequencing technology update
13:28 Panelist introductions
17:15 Carrier screening with PureTarget
19:56 Validation considerations for high-throughput labs
23:45 Operational benefits of a single workflow
25:50 The future shift to WGS
27:40 Implementing first-line testing at Radboudumc
30:53 Scaling HiFi at a national level
34:35 The HiFi Solves consortium
42:25 Round robin: Impact of HiFi on the lab
45:58 Advice for lab directors
48:15 Q&A: Coverage depth for clinical WGS
53:25 Q&A: Analysis tools for STRs and paralogs
*Resources*
* Learn more about PacBio solutions for human genomics: pacb.com/applications/human-genomics
What is the biggest hurdle for your lab in adopting long-read sequencing? *Comment below.*
*Subscribe for more PacBio genomics content:*
youtube.com/@PacificBiosciences?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: pacb.com/legal-and-trademarks
#HiFiSequencing #ClinicalGenomics #LongReadSequencing
