Nanopore PromethION, Oxford Nanopore’s highest-throughput sequencing device
By BBI Communications
BBI’s Dr. Danny Miller and the UW’s Nanopore Sequencing Core are providing both targeted and whole genome long read sequencing on the Oxford Nanopore platform to assist other researchers with their projects.
“As new DNA and RNA sequencing technologies are developed that provide a more comprehensive view of genetic variation, it is imperative that researchers and clinicians have access to leading-edge services,” said Miller, a pediatrics and medical genetics resident who will start his own lab at the UW this summer. “Our team is offering both targeted and whole-genome long-read DNA and RNA sequencing and complementary support of human samples and other organisms of interest, to all BBI members.”
That team is utilizing, among other machines, a Nanopore PromethION, Oxford Nanopore’s highest-throughput sequencing device, a scalable instrument that runs multiple flow cells independently and can sequence a human to ~40x coverage using a single flow cell. It is able to generate high quality datasets with average read lengths between 10kb and 60kb, suitable for many long-read applications, including identification of single nucleotide variants and indels, structural variant discovery, and methylation analysis.
For additional information, including consultations, price quotes, and submission guidelines, please contact Miller at firstname.lastname@example.org or visit UW Nanopore Sequencing Core.
The service has emerged from a BBI “catalytic collaboration” grant Miller and others received in 2019 to perform targeted long-read sequencing and to analyze the DNA of patients who had complex genetic changes or who lacked a complete genetic diagnosis. That work with Dr. Evan Eichler and several others led to several NIH grants and publications, including [“Targeted long-read sequencing identifies missing disease-causing variation,”](https://www.washington.edu/research/shared-research-facilities-resources/uw-nanopore-sequencing-core/ ""Targeted long-read sequencing identifies missing disease-causing variation"") published in August of 2021 in The American Journal of Human Genetics.