Nucleic Acids Research

Characterization of fusion genes and the significantly expressed fusion isoforms in breast cancer by hybrid sequencing

Weirather, J. L., Afshar, P. T., Clark, T. A., Tseng, E., Powers, L. S., Underwood, J. G., Zabner, J., Korlach, J., Wong, W. H., Au, K. F..

We developed an innovative hybrid sequencing approach, IDP-fusion, to detect fusion genes, determine fusion sites and identify and quantify fusion isoforms. IDP-fusion is the first method to study gene fusion events by integrating Third Generation Sequencing long reads and Second Generation Sequencing short reads. We applied IDP-fusion to PacBio data and Illumina data from the MCF-7 breast cancer cells. Compared with the existing tools, IDP-fusion detects fusion genes at higher precision and a very low false positive rate. The results show that IDP-fusion will be useful for unraveling the complexity of multiple fusion splices and fusion isoforms within tumorigenesis-relevant fusion genes.