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  • seqfish
    Junior Member
    • Jul 2013
    • 1

    #1

    What's the best tools to detect somatic mutations?

    Hi guys, I am quite new in cancer genome. Can anyone give me some suggestions on tools that can detect somatic mutations from a patient's tissue sequencing data? Thanks!
  • Richard Finney
    Senior Member
    • Feb 2009
    • 701

    #2
    I'm partial to bambino:



    hooking up annovar on the back end provides some good annotation.

    Comment

    • m_two
      Member
      • Mar 2010
      • 50

      #3
      The Genome Institute at Washington University in St. Louis makes software available at


      You can obtain support through biostar using the "music" tag.

      Detection Tools

      Bassovac
      Improved Bayesian inversion somatic caller

      BreakDancer
      SV caller using paired-end sequence data

      CMDS
      Recurrent CNV caller using population data

      CNVHMM
      An HMM-based copy number caller

      CopyCat
      A read depth based copy number caller

      CREST
      SV caller using soft-clipped reads

      PASSion
      Paired-end RNA-Seq splice site detection

      Pindel
      Indel caller using pattern growth

      SomaticSniper
      Bayesian somatic SNV caller
      (Useful for situations with normal contamination (ie adjacent normal or tissue infiltrating leukemias)

      SquareDancer
      Split reads for SV discovery

      TIGRA_SV
      De novo assembly of SV breakpoints

      VarScan
      Germline and somatic SNV and CNV caller
      Last edited by m_two; 07-26-2013, 09:44 AM.

      Comment

      • m_two
        Member
        • Mar 2010
        • 50

        #4
        Comparing somatic mutation-callers: beyond Venn diagrams
        Su Yeon Kim and Terence P Speed

        Comment

        • m_two
          Member
          • Mar 2010
          • 50

          #5
          Related:

          Global optimization of somatic variant identification in cancer genomes with a global community challenge

          Comment

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