Achieving more comprehensive variant detection at scale in rare disease research @PacificBiosciences
Achieving more comprehensive variant detection at scale in rare disease research  @PacificBiosciences
Uploaded October 2023 | Updated September 2026, 16 hours ago
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.

In this webinar Dr. Ameur discusses:
• More comprehensive detection of SNVs, SVs, tandem repeats, and epigenetic signals.
• Near-complete diploid assemblies generated to find complex, potential disease-causing SV regions.
• Use of the Revio system in future population-scale and single-cell sequencing research.

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Achieving more comprehensive variant detection at scale in rare disease researchGenomic surveillance of pathogens and antimicrobial resistant (AMR) pathogens in the environmentParaphase: genotyping highly similar paralogous genesBioinformatics resources to analyze HiFi cancer genomesKinnex explained—how concatenating smaller amplicons increases throughput for PacBio HiFi sequencingThe PacBio PI Chronicles - episode 2Streamline HiFi sequencing: introducing SMRT Link CloudKeynote presentation - New biology from new genomes: fruits from the Tree of LifeClosing the gap: Solving complex medically relevant genes at scale | Dr. Fritz Sedlazeck from BCMFull-length 16S rRNA gene sequences with FlexTax. PAG 2025 PacBio Workshop Part 5.Breakthrough discoveries in genomics, transcriptomics and epigenomics with HiFi long-read sequencingPureTarget: Modernize carrier screening with long-read sequencing
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Achieving more comprehensive variant detection at scale in rare disease research

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