Tonight, I watched the London Calling 2024 product demo. The title of the session was “From sample to insight: exploring human genomics with PromethION end-to-end sequencing solutions.” Rachel Rubinstein, a Technical Product Manager with ONT, was the moderator. They explained that with a single PromethION flow cell, you can obtain 100-200 Gbases of data and over 100 million reads! The PromethION flow cells work on P2, P24, and P45 instruments. The P24 can produce 48 full human genomes per week! Rubinstein explained that there will be an integrated EPI2ME setup for the human variation workflow with MinKNOW. Basically, as soon as the instrument finishes, the workflow will begin. The EPI2ME report will be available upon completion in MinKNOW. I hope other analyses are also connected to MinKNOW in future updates. Carika Weldon is the founder of CariGenetics in Bermuda. They explained that they bought the PromethION… but the government was hacked, and the instrument didn’t arrive before the field scientists for the training. Weldon noted they were the first in the region to get certified with PromethION. They are a small startup company. The small team wanted to do eight samples per day: from extraction to loading. After some challenges, they reached a steady state. Then, they ran out of reagents. Weldon explained that you can log in remotely to the PromethION. The next hurdle, they were running out of space! Weldon noted that Bermuda has data centers from Lloyds and other big companies. However, they had to move hard drives around by car for a while. They washed everything that was above 2,000 pores. They saved washed flow cells for runs to supplement genome coverage. Weldon partnered with a company to perform the analyses. Since they are using clinical samples, they compared the SNPs identified to those found in the clinical lab. They found all and more! The team is now running methylation analyses. Doing the Nanopore WGS of human genomes is more cost-effective than the panels the insurance companies often use! I really enjoy the humor that Carika Weldon brings to talks and the impressive work they are doing in Bermuda!
