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  • ashuchawla
    Member
    • Jan 2012
    • 38

    #1

    GATK Base Quality Recalibration

    Could any one please tell me what is the role of the dbsnp vcf file in the GATK Base Quality Score recalibration program -> http://www.broadinstitute.org/gsa/wi..._recalibration
  • nickloman
    Senior Member
    • Jul 2009
    • 355

    #2
    It's to mask out known SNPs so those positions don't get counted as mismatches / sequence errors.

    Comment

    • ashuchawla
      Member
      • Jan 2012
      • 38

      #3
      Originally posted by nickloman View Post
      It's to mask out known SNPs so those positions don't get counted as mismatches / sequence errors.
      Great thanks....I have another confusion, I have noticed the presence of similar snp's multiple times in the dbsnp file, do you know if this makes any difference to the recalibration process? Also, could you please if possible direct me to the actual code(java packages) where this dbsnp file is being used so that I can understand its functionality??

      Comment

      • nickloman
        Senior Member
        • Jul 2009
        • 355

        #4
        Have a dig around here
        http://www.broadinstitute.org/gsa/wi..._recalibration
        and
        Official code repository for GATK versions 1.0 through 3.7 (core engine). For GATK 4 code, see the https://github.com/broadinstitute/gatk repository - File not found · broadgsa/gatk


        Similar SNPs or the same SNP? I don't think the presence of the same SNP would make any difference to the result, the call is either ignored or it isn't.

        Comment

        • ashuchawla
          Member
          • Jan 2012
          • 38

          #5
          Originally posted by nickloman View Post
          Have a dig around here
          http://www.broadinstitute.org/gsa/wi..._recalibration
          and
          Official code repository for GATK versions 1.0 through 3.7 (core engine). For GATK 4 code, see the https://github.com/broadinstitute/gatk repository - File not found · broadgsa/gatk


          Similar SNPs or the same SNP? I don't think the presence of the same SNP would make any difference to the result, the call is either ignored or it isn't.
          I beleive same snp's, even I think it wont make any difference but i needed confirmation. And I have gone through most of these packages u posted the link for....was unable to find the one that I need.

          Comment

          • nickloman
            Senior Member
            • Jul 2009
            • 355

            #6
            java\src\org\broadinstitute\sting\gatk\walkers\recalibration\CountCovariatesWalker.java seems to be the relevant file...

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