Transforming tumor methylation profiling with Oxford Nanopore direct DNA sequencing

Epigenetic alterations play a pivotal role in cancer biology, and methylation profiling has become a key tool for tumor classification and clinical decision-making. This webinar explores how Oxford Nanopore direct DNA sequencing enables comprehensive methylation profiling in real time, without bisulfite or enzymatic conversion and no PCR amplification. Watch on demand to learn how this approach delivers a streamlined, integrated view of both genetic and epigenetic variation, offering faster, more complete insights from tumor DNA.

The first presentation, by Dr Francisco Marchi (ALMA Genomics)*, introduces the Acute Leukemia Methylome Atlas, a harmonized dataset of over 3,000 leukemia samples. Dr Marchi demonstrates how long nanopore reads and machine learning enable accurate AML subtype prediction and five-year survival modeling, underscoring the clinical potential of rapid, cost-effective methylation-based diagnostics for blood cancers.

The second presentation, by Dr Skarphéðinn Halldórsson (Oslo University Hospital), highlights the application of nanopore whole-genome sequencing for rapid, comprehensive molecular profiling of CNS tumors. This approach offers a complete and efficient solution for detecting potentially diagnostically and therapeutically relevant alterations. It also enables retrospective reclassification without additional testing, potentially replacing current genomic methods in molecular neuropathology with superior completeness, cost-effectiveness, and speed.

Together, these talks showcase how nanopore sequencing is transforming tumor methylation profiling, advancing precision oncology through speed, scalability, and completeness.

*Dr Francisco Marchi will present data generated from work at University of Florida and published in PMID: 40730747.