CGEn nodes have published a joint manuscript entitled ‘Benchmarking of Oxford Nanopore Whole Genome Sequencing for Germline Variant and CpG Methylation Detection Across Canada’s National Platform for Genome Sequencing and Analysis’ in Frontiers in Genetics. This major collaborative project involved benchmarking sequencing across all three nodes using Oxford Nanopore Technologies’ high-throughput PromethION instruments. Each node achieved highly comparable outputs, including >40X mean human genome coverage from a single flowcell, despite minor variations in sample preparation. Particularly striking was the very high concordance in DNA methylation detection between the three sites. Benchmarking activities using technologies like ONT that are increasingly applied in population genomics research (such as Genome Canada’s Canadian Precision Health Initiative) further solidify CGEn’s ability to remain in a ready state to generate high-quality, reliable and consistent data for national programs.
