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Variant recalibration tranche plot gives a very high number of novel variants and almost no FPs

Hi,

My question concerns the VQSR step. I am using GATK version 3.7 on 350 human WES samples. After the calling with HaplotypeCaller I have used the VariantRecalibrator function with the following command (see below) I get a tranche plot with a very high number of novel variants and almost none FPs compared to what I have seen on the best practice website. Ti/Tv values are ~2. Could you let me know if this is correct? Thanks!

Eric

java -jar $GATK_tools/GenomeAnalysisTK.jar \
-T VariantRecalibrator --disable_auto_index_creation_and_locking_when_reading_rods \
-R ${human_genome}_no_chr.fa \
-input $input/pool.annotated.sites_only.unfiltered.vcf \
--num_threads 25 -recalFile $output/pool.snps.recal_260918 \
-tranchesFile $output/snps.tranches_260918 \
-an QD -an MQRankSum -an ReadPosRankSum -an FS -an MQ -an InbreedingCoeff \
-resource:hapmap,known=false,training=true,truth=true,prior=15 $resources/hapmap_3.3.b37.vcf \
-resource:omni,known=false,training=true,truth=true,prior=12 $resources/1000G_omni2.5.b37.vcf \
-resource:1000G,known=false,training=true,truth=false,prior=10 $resources/1000G_phase1.snps.high_confidence.b37.vcf \
-resource:dbsnp137,known=false,training=false,truth=false,prior=2 $resources/dbsnp_138.b37.vcf \
-mode SNP \
-rscriptFile $output/snps.recalibration_plots_260918.rscript

Best Answer

Answers

  • etrepoetrepo Member
    edited October 9

    Hi @Geraldine_VdAuwera ,

    Thank you very much for your help. Indeed, after using a --target_titv of 3.2, the FP proportion increases significantly. May I ask you, if the number of novel variants displayed on the tranche plot looks odd to you? It is much higher than what I have seen on the best practice website for similar plots.

    Thanks!

    Eric

    Post edited by bhanuGandham on
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