The London Calling 2023 “Human genomics – from targeted to whole-genome sequencing” showcase recording is fifteen minutes long and highlights applications. Rachel Rubinstein, a technical product manager at Oxford Nanopore Technologies (ONT) shared various applications from targeted and whole genome de novo assembly. They spoke about the PromethION line of sequencing which can produce up to 200 Gbases per flow cell. Rubinstein noted that “great data starts with great extractions.” They explained that there are protocols for N50s of 10 kb, 30 kb, and ultralong library prep. The 30 kb protocol is for the kit 14 chemistry. Rubinstein also described how adaptive sampling can help sequence targets of interest while maintaining methylation information. The new kit 14 chemistry allows for both simplex and duplex chemistry. With duplex reads, Q30+ is possible. Rubinstein did mention that duplex sequencing is compute intensive. For data analysis, there is an EPI2ME Labs human variation workflow. Dr. Danny E. Miller, a clinical geneticist from the University of Washington, spoke about the use of genomics for comprehensive diagnosis of children. Human genome sequencing has allowed Miller and team to detect variants that standard techniques may miss. Miller is also director of the 1000 Genomes Consortium, and explained the goals of the program. The rich dataset will generate references and help explain variants. With adaptive sampling and the PromethION flow cells, Miller and team have obtain long reads and are able to reload and wash the flow cell for reuse! I want to learn how to reload and reuse PromethION flow cells.
