Assessing HiFi genomes as first-tier analysis in rare disease genetic research

Discover how highly accurate long-read sequencing (HiFi sequencing) on the PacBio Revio system is reshaping human genetics, uncovering variants inaccessible with short-read sequencing. A group of clinical researchers from Radboudumc sequenced 500 genomes to understand the efficacy of HiFi sequencing in interrogating the many possible genetic mechanisms underlying rare disease.

In this recording, professor Lisenka Vissers demonstrates how they confidently identified, using HiFi reads, a wide range of mutations – sequencing genomes with ~30-fold coverage of mutation-positive controls and rare disease cohorts.

Register to:

  • Understand the relevance for HiFi genomes in clinical research
  • Gain insights into the potential of HiFi genomes to understand undiagnosed diseases
  • Understand the potential of HiFi sequencing to become a single front-line assay for interrogating rare disease cohorts

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Lisenka Vissers

Professor, Radboudumc