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Int J Biol Sci 2018; 14(8):843-848. doi:10.7150/ijbs.24626

Research Paper

GeneFuse: detection and visualization of target gene fusions from DNA sequencing data

Shifu Chen1,2✉, Ming Liu1, Tanxiao Huang1, Wenting Liao1, Mingyan Xu1, Jia Gu2

1. HaploX Biotechnology, Shenzhen, China.
2. Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.

Abstract

In recent years, gene fusion detection for cancer treatment has become increasingly important since more therapeutic agents have been developed to suppress fusion kinases. Although a number of tools have been developed to detect gene fusions from DNA sequencing data, most of them are not sensitive enough for processing the data from the samples with low tumor DNA composition, like cell-free tumor DNA. In this paper, we will introduce GeneFuse, a tool to detect and visualize gene fusions with high sensitivity and specificity. GeneFuse focuses on the curated gene fusions, which are available in COSMIC (the Catalogue of Somatic Mutations in Cancer) database. For each detected fusion, GeneFuse reports its genome locus, inferred protein forms, and supporting sequencing reads. The fusion detection results are visualized in an HTML page for cloud-friendly validation. GeneFuse is an open source tool available at GitHub: https://github.com/OpenGene/GeneFuse

Keywords: GeneFuse, gene fusion, fusion detection, fusion visualization

This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY-NC) license (https://creativecommons.org/licenses/by-nc/4.0/). See http://ivyspring.com/terms for full terms and conditions.
How to cite this article:
Chen S, Liu M, Huang T, Liao W, Xu M, Gu J. GeneFuse: detection and visualization of target gene fusions from DNA sequencing data. Int J Biol Sci 2018; 14(8):843-848. doi:10.7150/ijbs.24626. Available from http://www.ijbs.com/v14p0843.htm