PacBio, Radboud UMC announces study results using HiFi long read sequencing

PacBio (PACB) announced a significant publication from Radboud University Medical Center and its research partners in the American Journal of Human Genetics. The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying genetic causes of rare diseases, illustrating the feasibility of potentially replacing multiple diagnostic tests with a single, more comprehensive approach. The study, led by Christian Gilissen and Lisenka Vissers of Radboudumc, used PacBio’s Revio platform and HiFi long reads to analyze 100 challenging patient samples where the genetic causes of rare diseases had been difficult to identify in previous investigations using short reads combined with various supplementary tests. HiFi sequencing results from these samples identified an impressive 93% of pathogenic variants, possibly enhancing cost-effective diagnostic implementation. HiFi technology also enabled the detection of genetic variants missed by short-read approaches, including complex structural variants and DNA methylation abnormalities to be identified. In support of this study and a broader transition to HiFi long-reads, PacBio and Radboudumc are accelerating efforts to study bringing this approach into clinical practice. The collaboration is advancing rapidly, with recent milestones demonstrating measurable progress: Nearly 1,000 samples processed: As of January 10, 2025, 981 samples have been sequenced, with 862 fully analyzed since August 2024. Operational improvements: Automated library preparation now enables 24 samples per run, with plans to scale up to 96 samples per run for even greater throughput. Streamlined workflows: Advanced protocols and a graphical user interface are being optimized to support future diagnostics for all variant types, with the first-tier diagnostic rollout targeted for summer 2025. Commitment to 5,000 diagnostic genomes: In the fourth quarter of 2024, Radboudumc expanded its Revio instrument fleet to support an order for 5,000 genomes on SPRQ chemistry.