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  • software that finding gene fusions on exome sequencing?

    Hi all,

    I'm thinking using exome sequencing data to look at gene fusions or larger indels. Does anyone know which software is good for this? I know it's going to be difficult because most breakpoints are in introns. Any suggesion?

    Thank you!

  • #2
    FusionMap can also work on genomic DNA sequences. I am not sure if it works for exome-seq.

    This paper seems to be able to find fusion genes from exome-seq. I wonder what software they use to do that

    Solitary fibrous tumors (SFTs) are rare mesenchymal tumors. Here, we describe the identification of a NAB2-STAT6 fusion from whole-exome sequencing of 17 SFTs. Analysis in 53 tumors confirmed the presence of 7 variants of this fusion transcript in 29 tumors (55%), representing a lower bound for fusi …

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    • #3
      Originally posted by ymc View Post
      FusionMap can also work on genomic DNA sequences. I am not sure if it works for exome-seq.

      This paper seems to be able to find fusion genes from exome-seq. I wonder what software they use to do that

      http://www.ncbi.nlm.nih.gov/pubmed/23313954
      Sorry to bring back such an old post, but I went through a little hassle to figure it out and I think it might be useful for others:

      They used dRanger (not publicly available) and Breakpointer.

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