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PacBio and Radboud UMC Unveil Groundbreaking Study Results Using HiFi Long-Read Sequencing

A recent study published in the American Journal of Human Genetics by PacBio and Radboud University Medical Center highlights the transformative potential of HiFi long-read sequencing technology in diagnosing rare diseases. The study demonstrated a 93% success rate in identifying pathogenic variants, offering a more comprehensive and cost-effective diagnostic approach. This collaboration is paving the way for the integration of HiFi sequencing into clinical practice, with significant advancements in sample processing and operational efficiency.

PacBio and Radboud UMC Unveil Groundbreaking Study Results Using HiFi Long-Read Sequencing

A significant publication from Radboud University Medical Center (Radboudumc) and its research partners, in collaboration with PacBio, has been featured in the American Journal of Human Genetics. This study underscores the impact of PacBio’s HiFi long-read sequencing technology in identifying genetic causes of rare diseases, suggesting a potential shift towards a more comprehensive diagnostic approach.

Study Highlights

  • High Success Rate: The study, led by Christian Gilissen and Lisenka Vissers of Radboudumc, utilized PacBio’s Revio platform and HiFi long reads to analyze 100 challenging patient samples. These samples had previously eluded diagnosis through short-read sequencing and supplementary tests. Remarkably, HiFi sequencing identified 93% of pathogenic variants.
  • Detection of Complex Variants: HiFi technology proved capable of detecting genetic variants missed by short-read approaches, including complex structural variants and DNA methylation abnormalities.

Advancements in Clinical Practice

PacBio and Radboudumc are intensifying efforts to integrate HiFi long-read sequencing into clinical diagnostics, with notable progress:
  • Sample Processing: As of January 10, 2025, 981 samples have been sequenced, with 862 fully analyzed since August 2024.
  • Operational Improvements: Automated library preparation now allows for 24 samples per run, with plans to increase to 96 samples per run for enhanced throughput.
  • Streamlined Workflows: Advanced protocols and a graphical user interface are being optimized to support future diagnostics for all variant types, aiming for a first-tier diagnostic rollout by summer 2025.
  • Commitment to Scale: Radboudumc expanded its Revio instrument fleet in the fourth quarter of 2024 to support an order for 5,000 genomes on SPRQ chemistry.
This collaboration marks a pivotal step towards revolutionizing the diagnosis of rare diseases, offering hope for more accurate and efficient patient care through advanced genomic sequencing technologies.
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Reference News

[1]
PacBio, Radboud UMC announces study results using HiFi long read sequencing
markets.businessinsider.com · Jan 14, 2025

PacBio's HiFi long-read sequencing technology, showcased in a study by Radboud University Medical Center, effectively id...

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