VariantRecalibration step issue
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6.8 years ago
win ▴ 990

Hi all, i need some advice about VariantRecalibration as in if I am doing the right thing.

Downloaded 30 bams from 1000 genomes and realigned them to HG38. Then using HaplotypeCaller generated a gVCF for each BAM. Then used CombineGVCFs and made a single VCF named cohort.g.vcf

Took a sample BAM and aligned to HG38. Then used HaplotypeCaller like above and generated a gVCF.

Now I am trying to genotype both the gVCF using

java -Xmx16g -jar algorithms/gatk3/gatk3.8.jar -T GenotypeGVCFs -R references/hg38gatkbundle/Homo_sapiens_assembly38.fasta --variant data/HG100/HG100.output.raw.snps.indels.g.vcf --variant references/hg38gatkbundle/exomerefs/vcf/cohort.g.vcf -o data/HG100/output.raw.combined.vcf

This is not working. When I ran ValidateVCF from GATK, for my sample VCF i got message about --reference_window_size adjustment as in make it larger than 108, 170 etc.

ValidateVariants on the cohort.g.vcf reports a broken line.

I am not just not sure why these issues.

Is there a simple straightforward pipeline/ tutorial published somewhere that helps get over this issue?

Any help will be highly appreciated.

vcf • 1.4k views
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You will likely receive a response at the GATK Forum: https://gatkforums.broadinstitute.org/gatk/categories/gatk-support-forum

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Thanks you very much. I will do as suggested.

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