Abstract
Euan Ashley described how he and his team of researchers from Stanford University School of Medicine developed a workflow for ultra-rapid nanopore sequencing that resulted in characterisation of pathogenic variants in under 8 hours. The work used Oxford Nanopore’s high-throughput sequencing device, PromethION 48, and Euan described how his team removed barcoding from the sequencing workflow and used the cloud to help with real-time basecalling and alignment, to reduce the time from sample to variant identification. Overall, Euan noted that he believes the study demonstrated that rapid identification of pathogenic variants has the future potential to guide physicians in clinical management, improve prognosis, and reduce treatment costs.
Learn more about nanopore sequencing: [ Ссылка ]
