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  • Rubal7
    Member
    • Jan 2012
    • 15

    #1

    SNP calling vs emitting variants

    Hello all,

    I am using GATK unified genotyper to call snps from multiple low coverage samples. I have lowered the -stand_call_conf threshold to 4 as recommended under these circumstances. However should I also be lowering -stand_emit_conf to the same level? My uncertainty arises because I am not clear of the difference between calling snps and emitting snps. Could someone kindly clarify this for me or point me in the right direction?

    Many thanks,

    Rubal7
  • jchoo
    Junior Member
    • Mar 2010
    • 9

    #2
    the same question, need help too~~

    Comment

    • biomichael
      Junior Member
      • Jul 2008
      • 5

      #3
      Originally posted by Rubal7 View Post
      Hello all,

      I am using GATK unified genotyper to call snps from multiple low coverage samples. I have lowered the -stand_call_conf threshold to 4 as recommended under these circumstances. However should I also be lowering -stand_emit_conf to the same level? My uncertainty arises because I am not clear of the difference between calling snps and emitting snps. Could someone kindly clarify this for me or point me in the right direction?

      Many thanks,

      Rubal7
      I also encontered the same problem. Have you solved the problem?

      Comment

      • jchoo
        Junior Member
        • Mar 2010
        • 9

        #4
        not yet now, maybe the forum of Broad may help……

        Comment

        • Rubal7
          Member
          • Jan 2012
          • 15

          #5
          No, not solved it yet

          Comment

          • biomichael
            Junior Member
            • Jul 2008
            • 5

            #6
            I got some information in the following site: http://www.broadinstitute.org/gsa/ga...tand_call_conf

            In the 1000 genomes project for pilot 2 (deep coverage of ~35x) we expect the raw Qscore > 50 variants to contain at least ~10% FP calls. We use extensive post-calling filters to eliminate most of these FPs. Variant Quality Score Recalibration is a tool to perform this filtering.

            -stand_call_conf [50.0]
            -stand_emit_conf 10.0

            So, I guess the -stand_emit_conf parameter is to lower the FPs(false positive?) got by the -stand_call_conf parameter. if -stand_call_conf=50 and -stand_emit_conf=10, the variants between 10 and 50 will be emitted but also marked as filtered.

            I don't know whether I understand rightly.

            Comment

            • ymc
              Senior Member
              • Mar 2010
              • 496

              #7
              Originally posted by biomichael View Post
              I got some information in the following site: http://www.broadinstitute.org/gsa/ga...tand_call_conf

              In the 1000 genomes project for pilot 2 (deep coverage of ~35x) we expect the raw Qscore > 50 variants to contain at least ~10% FP calls. We use extensive post-calling filters to eliminate most of these FPs. Variant Quality Score Recalibration is a tool to perform this filtering.

              -stand_call_conf [50.0]
              -stand_emit_conf 10.0

              So, I guess the -stand_emit_conf parameter is to lower the FPs(false positive?) got by the -stand_call_conf parameter. if -stand_call_conf=50 and -stand_emit_conf=10, the variants between 10 and 50 will be emitted but also marked as filtered.

              I don't know whether I understand rightly.
              Based on my experimentation, decreasing the -stand_emit_conf argument will simply increase number of LowQual calls but have virtually none effect on the PASS calls. So I don't think FP rate will change unless you also count LowQual calls as positives.

              Comment

              • blueskypy
                Junior Member
                • May 2013
                • 3

                #8
                -stand_emit_conf 10.0 means that it won’t report any potential SNPs with a quality below 10.0; but unless they meet the quality threshold set by -stand_call_conf (50.0, in this case), they will be listed as failing the quality filter

                Comment

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