Tonight, I started watching the Oxford Nanopore Technologies webinar on September 11, 2024. The title was “Unlocking comprehensive genomes for large-scale projects.” Dr. Karen Stewart moderated the event. Cora Vacher, Associate Director of Segment Marketing – Human Genetics with ONT, began by introducing “the era of complete genomes.” They spoke about the importance of Nanopore ultra-long reads to complete the telomere-to-telomere assembly. Vacher added that phased genome assemblies and the human pangenome are coming. Vacher did note that there are still many things to find! They also explained that a reference genome is critical. They had a slide with increasing levels of coverage needed for genotyping, research scale WGS (10-20X), standard WGS (30X), assembly (40X ultra-long), and required multi-mode approach for T2T assembly! Vacher recommended one sample for 30X for human genomics on a PromethION flow cell. Vacher then described how ONT sequencing of human genomes can produce haplotype-resolved genetic and epigenetic variation analyses from a single flow cell. They also spoke about the Telomere-to-telomere (T2T) bundle that ONT has, consisting of Ultra-long reads (SQK-ULK114), Pore-C (SQK-LSK114), and assembly polishing kit (SQK-APK114). The kit isn’t available yet, but there is an interest form. Vacher explained how the kit and technologies make genome sequencing accessible. This was the first speaker of the session.
