Achieving more comprehensive variant detection at scale in human genetics research

  Tuesday, September 26, 2023 | 15.00 BST | 16.00 CEST

Higher throughput and lower costs for accurate long-read sequencing are now available on the Revio system with its trusted highly accurate long-read chemistry (HiFi chemistry). HiFi sequencing detects all types of variants with high precision and recall, phases haplotypes, and identifies methylation patterns across the genome.

SciLifeLab in Uppsala, Sweden, has implemented the Revio system in their workflow, opening up new opportunities to a range of sequencing applications, including whole-genome HiFi sequencing for human genomic research.

Adam Ameur, PhD, associate professor at SciLifeLab, will present early results of whole-genome HiFi sequencing in human genomic research, as part of the Genomic Medicine Sweden project. Working on a small cohort they achieved up to 30-fold HiFi coverage from a single SMRT Cell per genome. This study focuses on finding variants – ranging from single nucleotide variants (SNVs) to large structural variants (SVs) and epigenetic signals – using a single technology.

In this webinar, Dr. Ameur will discuss: 

  • 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

Register for webinar


Adam Ameur, PhD
Associate professor
Mark Chaisson, PhD
Assistant Professor
Computational Biology and Bioinformatics
University of Southern California
Guest speaker

Democratizing Genome Assembly and Annotation

Ted Kalbfleisch, Ph.D., Associate Professor, University of Kentucky

Molecular Genetic Applications Enabled by Platinum Quality Reference Genome Assemblies in Octoploid Strawberry

Mitchell Feldmann, Ph.D., Postdoctoral Fellow, University of California, Davis.