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  • oiiio
    Senior Member
    • Jan 2011
    • 105

    #1

    Variation Callers?

    I am analyzing some whole genome data and at the moment I use GATK for indels and SNPs. What are some other tools or pipelines out there for whole genome analysis?

    For example I read the HugeSeq paper, and I saw pindel, CNVnator, BreakDancer, and BreakSeq. Does anyone have other recommendations or preferences among these ?

    And do you (or how do you ) combine results from two programs, such as UnifiedGenotyper and Pindel?
  • Jane M
    Senior Member
    • Aug 2011
    • 239

    #2
    Hello,

    There is the same topic here: http://seqanswers.com/forums/showthread.php?t=15000, in case it helps.

    There are also SomaticSniper, MuTect & SNVMix (only for SNPs) and VarScan...
    I have not yet any experience in combining results from two programs, so I cannot help, but I am interested in the answer

    Comment

    • Zam
      Member
      • Apr 2010
      • 51

      #3
      one more for the long list:

      Discussion of next-gen sequencing related bioinformatics: resources, algorithms, open source efforts, etc

      Comment

      • aeonsim
        Member
        • Jun 2011
        • 46

        #4
        Real time genomics (rtg) commercial great for trios
        Freebayes
        Samtools

        Are other good tools.

        Comment

        • oiiio
          Senior Member
          • Jan 2011
          • 105

          #5
          Thanks for the replies so far,

          I'm extremely interested in the combinations of tools - like HugeSeq's pindel and unified genotyper combo - that people think form really comprehensive analysis?

          Comment

          • dnusol
            Senior Member
            • Jul 2009
            • 136

            #6
            Hi there

            it seems that FreeBayes has not been published yet. Is this so?

            The direct detection of haplotypes from short-read DNA sequencing data requires changes to existing small-variant detection methods. Here, we develop a Bayesian statistical framework which is capable of modeling multiallelic loci in sets of individuals with non-uniform copy number. We then describe our implementation of this framework in a haplotype-based variant detector, FreeBayes.



            Thanks

            Dave

            Comment

            • girlmonkey
              Member
              • Aug 2013
              • 11

              #7
              We are using Platypus (http://www.well.ox.ac.uk/platypus) for our Haloplex panels.

              Comment

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