Dmitrijs Rots from Erasmus MC in the Netherlands presented at the Nanopore Community Meeting in Boston (NCM Boston 2024) on “DNA methylation signature detection using ultra-rapid, long-read nanopore genome sequencing.” Rots mentioned that Erasmus MC is one of the largest hospitals in Europe! The team wanted to implement nanopore sequencing to test for methylation and improve turnaround times to address current diagnostic gaps. Rots is interested in the utility of DNA methylation signatures (DNAm): these unique patterns can be used as biomarkers. Current methods use arrays and bisulfite conversion, which is time-consuming and variable. Rots and the team analyzed samples from Kleefstra and Kabuki syndromes. A classifier was trained to identify controls and cases. The system they designed is called EpigenCentral. Next, the team plans on testing an ultra-rapid testing approach for fifty critically ill children. Classification takes very little time once a signature is determined. The team has performed a downsampling experiment to simulate different turnaround times. Rots noted that sequencing on two PromethION flow cells takes about 12 hours. I am interested in EpigenCentral and will try to learn more about it!
