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  • desmo
    Member
    • Nov 2011
    • 25

    #1

    VariantRecalibrator input file error

    Hi everyone,
    I'm having some trouble with the variant quality score recalibrator.
    I have the following error message.

    MESSAGE: Bad input: Values for HaplotypeScore annotation not detected for ANY training variant in the input callset. VariantAnnotator may be used to add these annotations.

    I've used the following command line:
    java -jar GenomeAnalysisTK.jar
    -T VariantRecalibrator
    -resource: hapmap,known=false,training=true,truth=true,prior=15.0 hapmap_3.3.b37.sites.vcf
    -resource: omni,known=false,training=true,truth=false,prior=12.0 1000G_omni2.5.b37.sites.vcf
    -resource: dbsnp,known=true,training=false,truth=false,prior=8.0 dbsnp_132.b37.vcf
    -an HaplotypeScore
    -nt 3
    -input realigned.vcf
    -R chr01.fa
    -recalFile output.recal
    -tranchesFile output.tranches
    -rscriptFile output.plots.R

    The realigned.vcf file looks like

    #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Campione
    1 565006 . T C 10.43 LowQual AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=10.43 GT:AD: DP:GQ:PL 1/1:0,1:1:3.01:40,3,0
    1 566933 . A G 11.01 LowQual AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01 GT:AD: DP:GQ:PL 1/1:0,1:1:3.01:41,3,0
    1 566960 . T C 11.01 LowQual AC=2;AF=1.00;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=11.01 GT:AD: DP:GQ:PL 1/1:0,1:1:3.01:41,3,0
    1 567002 . T C 68.76 PASS AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.92 GT:AD: DP:GQ:PL 1/1:0,3:3:9.01:101,9,0
    1 567033 . T C 38.66 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=19.33 GT:AD: DP:GQ:PL 1/1:0,2:2:6.02:70,6,0

    It is already annoted.
    So where is the problem?
    I have to annotate the "resource" files? I downloaded these callset from the GATK resource boundle. Aren't they already annoted?
  • kenietz
    Member
    • Nov 2011
    • 86

    #2
    Hi there,
    yeah i have the same error and a lot of other people as well
    Now then it seems that the VCF file which we pass to the command should have in their INFO lines these strings "QD" "HaplotypeScore" "MQRankSum" "ReadPosRankSum" "FS" "MQ". In your case only HaplotypeScore of course. The nice thing is that the VCF provided by GATK and the ones which supposedly we should pass do not contain that info at all

    For example in your case you pass:
    -resource: hapmap,known=false,training=true,truth=true,prior=15.0 hapmap_3.3.b37.sites.vcf

    so this file should have "HaplotypeScore" in the INFO section which im sure it doesnt. Not in mine VCF.

    So in my case i pass these three VCFs and they should contain the corresponding Key strings but they do not:
    dbsnp_135.hg19.vcf
    hapmap_3.3.hg19.sites.vcf
    1000G_omni2.5.hg19.sites.vcf

    The only VCF file which contain all of the annotations is:
    NA12878.HiSeq.WGS.bwa.cleaned.raw.subset.hg19.vcf

    But then how to specify that want to use that one? For the other three there are the strings: hapmap, omni and dbsnp. But what about NA12878? No idea.

    So im stuck on that stupid part

    Any help is appreciated
    Thank you

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