Single-workflow nanopore whole-genome sequencing with adaptive sampling for accelerated and comprehensive paediatric cancer profiling
Paediatric cancers feature a broad range of genomic and epigenomic changes, which are difficult and time-consuming to identify because they require multiple genetic tests, delaying crucial treatment decisions. Here, the authors used Oxford Nanopore sequencing to detect all major genomic and epigenomic alterations across the whole genome of research samples, in real time and within a single workflow. In addition, the team used adaptive sampling, a targeted sequencing method, to enrich genomic regions, enabling them to identify key mutations, fusions, and methylation patterns within hours. This study shows the potential of nanopore sequencing with adaptive sampling to streamline future paediatric cancer diagnoses into one rapid and affordable assay.
‘… our results are the first to achieve the sequencing depth needed to detect every type of genomic alterations, including mutations in pediatric cancers using a single assay’
Geoffrion, Lawruk-Desjardins, and Langlois et al. medRxiv (2025)
Sample type: tumour tissue, including bone marrow aspiration, biopsy, or surgical resection
