Tonight I watched Kieran O’Neill from Canada’s Michael Smith Genome Sciences Centre speak about “Long-read sequencing of an advanced cancer cohort” as part of London Calling 2025. This centre, O’Neill explained is one of the largest sequencing centers in Canada. The centre has a cohort of 189 diverse advanced cancer patients. With their personalized oncogenomics (POG) program, they sequence patient samples with high coverage and N50. The cohort is matched with healthy samples. The coverage and long reads after size selection help resolve complex structural variants. Additionally, O’Neill explained that they used phasing. The team is also analyzing extrachromosomal circular DNAs and their methylation patterns. Allele-specific methylation can also be identified,a nd the team highlighted one case in which methylation was the likely cause. O’Neill ended by explaining how they are trying new approaches and have a robust workflow to learn about the genomes and their potential phenotypic consequences.
