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 webinar, 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.
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