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.

Sample type: blood, bone marrow

Kit: Ligation Sequencing Kit, Native Barcoding Kit, cDNA-PCR Barcoding Kit