QD Annotation error in GATK in VariantRecalibration step
0
0
Entering edit mode
6.8 years ago
win ▴ 990

hi all, i downloaded a BAM file from 1000 genomes to work on and converted it to FASTQ and aligned with bwa mem to hg38, this worked fine.

later I wanted to run VariantRecalibration and use the following commands for SNP and they worked fine as well.

 java -Xmx8g -jar algorithms/gatk3/gatk.jar -T VariantRecalibrator -R references/hg38gatkbundle/Homo_sapiens_assembly38.fasta -input data/HG100/HG100.output.raw.combined.vcf -mode SNP -resource:hapmap,known=false,training=true,truth=true,prior=15.0 references/hg38gatkbundle/hapmap_3.3.hg38.vcf -resource:omni,known=false,training=true,truth=true,prior=12.0 references/hg38gatkbundle/1000G_omni2.5.hg38.vcf -resource:1000G,known=false,training=true,truth=false,prior=10.0 references/hg38gatkbundle/1000G_phase1.snps.high_confidence.hg38.vcf -resource:dbsnp,known=true,training=false,truth=false,prior=2.0 references/hg38gatkbundle/Homo_sapiens_assembly38.dbsnp138.vcf -an DP -an QD -an FS -an SOR -an MQ -an MQRankSum -an ReadPosRankSum --maxGaussians 4 -tranche 100.0 -tranche 99.9 -tranche 99.0 -tranche 90.0 -recalFile data/HG100/HG100.recalibrate.SNP.recal -tranchesFile data/HG100/HG100.recalibrate.SNP.tranches -rscriptFile data/HG100/HG100.recalibrate.SNP.plots.R

and

java -Xmx8g -jar algorithms/gatk3/gatk.jar -T ApplyRecalibration -R references/hg38gatkbundle/Homo_sapiens_assembly38.fasta -input data/HG100/HG100.output.raw.combined.vcf -mode SNP --ts_filter_level 99.5 -recalFile data/HG100/HG100.recalibrate.SNP.recal -tranchesFile data/HG100/HG100.recalibrate.SNP.tranches -o data/HG100/HG100.recalibrated.snp.vcf

Next I wanted to perform VariantRecalibration for InDels so use the following command:

java -Xmx8g -jar algorithms/gatk3/gatk.jar -T VariantRecalibrator -R references/hg38gatkbundle/Homo_sapiens_assembly38.fasta -input data/HG100/HG100.output.raw.combined.vcf -mode INDEL -resource:mills,known=false,training=true,truth=true,prior=12.0 references/hg38gatkbundle/Mills_and_1000G_gold_standard.indels.hg38.vcf -resource:dnsnp,known=true,training=false,truth=false,prior=2.0 references/hg38gatkbundle/Homo_sapiens_assembly38.dbsnp138.vcf -an QD -an DP -an FS -an SOR -an ReadPosRankSum -an MQRankSum -an InbreedingCoeff --maxGaussians 4  -recalFile data/HG100/HG100.recalibrate.INDEL.recal -tranchesFile data/HG100/HG100.recalibrate.INDEL.tranches -rscriptFile data/HG100/HG100.recalibrate.INDEL.plots.R

The issue I am facing is that when i run the above command I am getting an annotation related error for e.g QD annotation is not found on any input callsets. I have confirmed that the input VCf has the annotations since it was specified on the UnifiedGenotyper.

Any ideas why this is happening, i am trying to detect variants from a single BAM file.

Any help will be highly appreciated.

NGS • 4.2k views
ADD COMMENT
0
Entering edit mode

Any ideas as to why this is happening?

ADD REPLY
0
Entering edit mode

This link might be helpful https://gatkforums.broadinstitute.org/gatk/discussion/5201/variantrecalibrator-error-values-for-qd-annotation-not-detected-for-any-training-variant

I'm guessing you are using a version < GATK 4.0? I don't know alot about it but I tried to recreate your error and the UnifiedGenotyper has been deprecated and is not recommended, however since in the documentation for it has the annotation flag as -A maybe you have to type QualByDepth like with the VarientAnnotator, instead of -A QD

also you can look here for some instructions on how to find the avaliablecommands https://software.broadinstitute.org/gatk/documentation/tooldocs/3.8-0/org_broadinstitute_gatk_tools_walkers_genotyper_UnifiedGenotyper.php#--annotation

Good Luck and sorry I don't have a straight forward answer for you.

ADD REPLY

Login before adding your answer.

Traffic: 2689 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6