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Updated: Jul 7, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations
11:52

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

Fuscan: a robust DNA fusion caller for targeted sequencing data in cancer diagnostics

Zhaoying Liu1, Siyu Wang1, Si Chen1

  • 1Shanghai Yijian Medical Laboratory Co., Ltd., Shanghai, 201802, China.

Bioinformatics Advances
|July 6, 2026
PubMed
Abstract

Insights

Fuscan accurately identifies oncogenic gene fusions from targeted sequencing data, improving precision oncology by reducing false positives in complex samples like liquid biopsies.

Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Somatic gene fusions are key drivers of oncogenesis.
  • Targeted sequencing aids therapeutic selection in precision oncology.
  • Existing structural variant (SV) callers struggle with targeted sequencing data, producing false positives.

Purpose of the Study:

  • To develop Fuscan, a DNA fusion caller optimized for targeted sequencing data.
  • To enhance the identification of oncogenic driver fusions.
  • To improve the accuracy of fusion detection in clinical samples.

Main Methods:

  • Developed Fuscan, a novel DNA fusion caller.
  • Focused alignment on targeted driver sequences.
  • Filtered homologous genomic regions to prevent false-positive breakpoints.
  • Validated Fuscan on non-small cell lung cancer specimens, SV reference standards, and healthy controls.

Main Results:

  • Fuscan demonstrated high accuracy, achieving an AUC of 0.992.
  • The tool effectively identified oncogenic drivers in targeted sequencing data.
  • Fuscan showed robustness in challenging samples, including low-tumor-content tissues and liquid biopsies.

Conclusions:

  • Fuscan is a robust and sensitive tool for detecting gene fusions in targeted sequencing data.
  • The caller improves the accuracy of oncogenic driver identification for precision oncology.
  • Fuscan addresses limitations of existing SV callers in targeted sequencing applications.

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