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

Authors: Weirather, Jason L and Afshar, Pegah Tootoonchi and Clark, Tyson A and Tseng, Elizabeth and Powers, Linda S and Underwood, Jason G and Zabner, Joseph and Korlach, Jonas and Wong, Wing Hung and Au, Kin Fai

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. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

Journal: Nucleic acids research
DOI: 10.1093/nar/gkv562
Year: 2015

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