Combining panel-based and whole-transcriptome-based gene fusion detection by long-read sequencing
The Children’s Hospital of Philadelphia (CHOP) cancer fusion panel uses short-read sequencing to target 119 oncogenes commonly implicated in cancer gene fusions (GFs), but is limited by read length, target scope, and a 14–21-day turnaround. Rybacki et al. adapted libraries from the panel for targeted Oxford Nanopore sequencing and combined them with whole-transcriptome sequencing for panel-negative cases. They achieved a faster turnaround time and identified novel GFs, demonstrating rapid and comprehensive fusion detection with future potential for use in the clinic.
'We highlight the potential of ONT to uncover previously undetected cancer-related GFs, thereby demonstrating its utility for both clinical diagnostic applications and translational research'
Rybacki et al. 2025
Sample type: blood, bone marrow
Kit: Ligation Sequencing Kit, Native Barcoding Kit, cDNA-PCR Barcoding Kit
