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  • volavii
    Member
    • Apr 2013
    • 16

    #1

    How to handle heterozygous INDELS

    Hey,

    how do you handle INDELS which show in a .vcf file a heterozygous status. Meaning there are two alleles in the sample: 50% of the reads show the INDEL the remaining ones do not show this INDEL. Do you know what is the general procedure for these cases? Or does someone knows a nice paper handling/discussing this case?
    I want to create a consesus sequence from my mapping data, but I`m usure on what to do with these specific INDELS.

    MANY THANKS IN ADVACE!

    Volavi
  • Melissa
    Senior Member
    • Aug 2008
    • 124

    #2
    If I were to do this, I would store the consensus sequences in a pileup format. You might get better ideas after looking at SOAPindel and indelrealigner.


    https://www.broadinstitute.org/gatk/...ealignment.pdf

    Comment

    • volavii
      Member
      • Apr 2013
      • 16

      #3
      Hey,

      thanks for your reply. I already used the indelrealigner and further steps were done by GATK-tools, too. But there are still heterozygous INDELS and I need a consensus sequence for furhter steps.... My Idea was to have both, consensus and the INDEL-vcf to be later able to check if a specific region of the genome - which is under investigation - may contains two different alleles (INDEL and no INDEL)....

      Thanks,
      volavii

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