Gene fusion analysis

For comprehensive and easy to use analysis of gene fusions including visualization and tailored reporting.

Gene fusions are important diagnostics markers

Gene fusions have been recognized as driver mutations in neoplasia, and insights gained have helped to shape our understanding of the carcinogenic process. 

Gene fusions play an important role in the cancer diagnostics workup and can help with:

  • Diagnosis and disease sub-classification
  • Screening
  • Treatment stratification
  • Monitoring of minimal residual disease

Gene fusion detection is crucial for accurate diagnosis, prognosis, and determining therapeutic targets.

RNA-sequencing enables unbiased gene fusion detection and can improve therapy selection by providing a treatment with targeted agents, see example in table. 

Gene fusions drugs

Qlucore’s Gene fusion model (RuO)

Scalable and visualization-based solution for fusion driven analysis, from data to report based on RNA-seq and standard NGS workflows.

Qlucore’s Gene fusion model

A gene fusion model is executed in Qlucore Insights platform. Together with the platform the model enables the following: 

  • User-friendly interface for exploration of detected gene fusions, with no need for bioinformatics expertise.   
  • Extensive visualization options in Genome browser and circle plots. 
  • Integration with gene fusion data bases (example: the Mitelman database) for comprehensive analysis and evaluation.  
  • Easy filtering options on relevant quality metrics, location and more, to quickly identify the fusions of most relevance.  
  • Highly customizable report.  

Supported data

supported data

  • RNA-seq data, reference genome hg 19 or hg 38.  
  • Supported fusion callers:
    • Fusion-Catcher 
    • STAR-Fusion 
    • Arriba
    • Manta (TSO500)

Work is ongoing to support more data formats.