Combining genomic and transcriptomic profiling allows real-time stratification of hematologic malignancies.mp4

Anna described her nanopore whole-genome and transcriptome sequencing workflows for investigating AML mutation, which were developed last year.

Anna: Our WGS workflow enabled quick CNV profiling in AML. We could feasibly capture CNV profiles at 0.5x whole-genome depth of coverage.

Anna: Nanopore cDNA sequencing allowed exact detection of fusion breakpoints at the nucleotide level, and the workflow was robust to quickly profile gene expression in AML tumours.

Anna described how they are moving towards analysing structural variants in whole genome DNA sequencing data. She said that maximum performance can be achieved at only 8-fold genome coverage, and their approach identifies 85% of direct inversions and translocation breakpoints correctly.