Main menu

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

Authors: Karleena Rybacki, Feng Xu, Hannah M. Deutsch, Mian Umair Ahsan, Joe Chan, Zizhuo Liang, Yuanquan Song, Marilyn Li, Kai Wang

Getting started

Buy a MinION starter pack Nanopore store Sequencing service providers Channel partners

Nanopore technology

Subscribe to Nanopore updates Resources and publications What is the Nanopore Community

About Oxford Nanopore

News Company timeline Sustainability Leadership team Media resources & contacts For investors For partners Working at Oxford Nanopore Current vacancies Commercial information BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Spanish flag