genotype 0/0 if not SNPs identified by GATK
GATK version used: gatk/4.1.2.0
Exact command used: gatk BaseRecalibrator - ApplyBQSR - HaplotypeCaller - VariantRecalibrator-ApplyVQSR
The following are the parameters I used in BQSR, VariantRecalibrator, and ApplyVQSR:
BQSR: --static-quantized-quals 10 --static-quantized-quals 20 --static-quantized-quals 30
VariantRecalibrator: --max-gaussians 6 -an QD -an FS -an MQRankSum -an ReadPosRankSum -an SOR -an MQ and four training sets from Bundle:
-resource:hapmap,known=false,training=true,truth=true,prior=15.0 $vcfHapmap \
-resource:omni,known=false,training=true,truth=true,prior=12.0 $vcfOmni \
-resource:1000G,known=false,training=true,truth=false,prior=10.0 $vcfGlk \
-resource:dbsnp,known=true,training=false,truth=false,prior=7.0 $vcfDbsnp
ApplyVQSR: -truth-sensitivity-filter-level 99.5
Entire error log: NONE
I am using GATK to call SNPs in tumor samples (I try to find all SNPs regardless of germline or somatic). And after I calibrated all SNPs identified by GATK, can I say other positions that don't include in output vcf have no SNPs detected? I used samtools to remove low quality and flagged reads and to see the depth of some interesting genomic positions that no SNPs detected by GATK. As I took those positions with genotype REF/REF. Wonder if it is a solid conclusion.
Thanks.
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ZYou you may want to check out GVCF mode of HaplotypeCaller to get more information about each position. You could also look at Mutect2 to determine if there are somatic mutations present.
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