Achieving more comprehensive variant detection at scale in rare disease research

Higher throughput and lower costs for highly accurate long-read (HiFi) sequencing are now available on the Revio system. HiFi sequencing enables you to capture all variant types with high precision and recall, phase haplotypes, and identify methylation patterns across the genome. Dr. Adam Ameur of SciLifeLab in Uppsala, Sweden, has implemented the Revio system to create new discovery opportunities for a range of HiFi sequencing applications, including whole-genome sequencing in human genomic research.