Alberto Magi from the University of Florence, Italy presented at London Calling 2022 a session called “Exploring the genomic and epigenomic landscape of acute myeloid leukemia with nanopore sequencing.” They spoke about the impact of acute myeloid leukemia and how they use patient samples to study this disease. They took three patient samples and timepoints from diagnosis through relapse. Magi and team performed high-coverage whole genome sequencing. They used 215k lines of code to analyze the sequences. With this, they detected variants in relapse. However, Magi noted that “SVs appear not directly responsible for chemo-resistance.” They used a methylation caller and created a high-resolution CpG map. The identified regions of differential methylation, including transcription factors. They hypothesized that genes for transcription factors would be differentially expressed. They tested this by performing RNA-seq. These results allowed them to conclude that high-resolution methylation maps identified cancer factors and transcription factors that affect chemo-resistance.
