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

Jason L. Weirather | Zendy; Pegah Tootoonchi Afshar | Zendy; Tyson A. Clark | Zendy; Elizabeth Tseng | Zendy; Linda S. Powers | Zendy; Jason G. Underwood | Zendy; Joseph Zabner | Zendy; Jonas Korlach | Zendy; Wing Hung Wong | Zendy; Kin Fai Au | Zendy

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

Author(s) -

Jason L. Weirather,

Pegah Tootoonchi Afshar,

Tyson A. Clark,

Elizabeth Tseng,

Linda S. Powers,

Jason G. Underwood,

Joseph Zabner,

Jonas Korlach,

Wing Hung Wong,

Kin Fai Au

Publication year - 2015

Publication title -

nucleic acids research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 9.008

H-Index - 537

eISSN - 1362-4954

pISSN - 0305-1048

DOI - 10.1093/nar/gkv562

Subject(s) - fusion gene , biology , fusion , computational biology , gene , dna sequencing , fusion protein , genetics , carcinogenesis , linguistics , philosophy , recombinant dna

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.

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