Tonight, I continued watching the ONT webinar I started watching last night. The title of the session I watched was “Towards clinical WGS on the PromethION” by Greg Elgar, Director of Sequencing R&D at Genomics England. Elgar started by saying that they have three benchtop PromethIONs. Elgar described the timeline of Genomics England (GEL): they started in 2013 and have sequenced with Nanopore devices since 2020. GEL is embedded within the Sanger Institute. The three PromethION 48 devices are used for sequencing, and five NVIDIA DGX A100 are used for base calling. The group has sequenced a mixture of samples from rare disease cohorts, cancer cohorts, COVID patients… Elgar noted that sequencing depth varies with the preparation and variability in the flow cells. Elgar explained that the Cancer 2.0 program aims to take sequencing into the clinical space. The program has generated data in support of the use of Nanopore sequencing for cancer variant detection. Elgar explained that the cancer samples are often from DNA extractions that are not intended for sequencing. The team is also working on ONT classifiers for methylation. Genomics England collaborates with ONT and Eurofins to develop a multiomics workflow.
