Core webinar: PromethION 24 – what you’re missing matters

Long nanopore sequencing reads offer the potential to improve both the speed and yield of genetic characterisation and information.

During this webinar, Steven Jones from the Michael Smith Genome Sciences Centre discussed the benefits of long nanopore sequencing reads for a range of research applications. Then, Joe Whittaker introduced Oxford Nanopore’s technology and demonstrated the range of PromethIONTM devices available, and how they can be utilised to achieve flexible, large-scale, direct DNA and RNA sequencing.

This webinar covered how:
•    Long reads can more accurately discover and define large-scale structural variation, and the alignment of long reads can provide a more accurate assessment of regions that are highly repetitive and duplicated.
•    Using epigenomic signals associated with sequencing data can help confirm the pathogenicity for variants initially determined to be of unknown significance, thereby improving time to results, and potentially diagnosis.
•    Detection of phased methylation can determine imprinted regions, and coupling this information with long-range haplotyping allows assignment of parental origin of all human autosomes, which could significantly increase the speed and reduce the cost of hereditary cancer testing in the future.

Authors: Steven Jones and Joe Whittaker