Tonight, I continued watching the ONT webinar I started last night, which focused on scalable human genomic characterization with nanopore sequencing. The second speaker was Anthony Doran, Associate Director of Bioinformatics Field Applications with Oxford Nanopore Technologies. Doran’s session was titled “Bioinformatics from beginner to production: EPI2ME, Oxford Nanopore’s data analysis platform.” ONT’s theme this year is “see what you’re missing.” Doran highlighted some workflows that can help, such as haplotype-resolve genomics studies. MinKNOW, Doran explained, is the software used to work with devices. EPI2ME now has local and cloud-based analyses. Several workflows are now available. Doran described the HTML reports that EPI2ME creates. The EPI2ME platform is user-friendly, fully supported, open access, and uses best practices, noted Doran. All workflows come with demo data. Data produced using MinKNOW can be directly analyzed with EPI2ME. Also, command-line implementations are available. The workflows are based on industry-standard best practices. The human genome variation workflow can take output from MinKNOW and perform variant detection and methylation aggregation, phasing… and a lot more. Specific features can be selected to analyze particular variants.
