Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Error on Google Cloud Platform: haplotypecaller-gvcf-gatk.wdl with make_gvcf = false

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    Beri

    Hi ikeoluwao_o

    Looks like HaplotypeCaller is not able to handle Allele-specific annotations (-G AS_StandardAnnotation) when run in VCF mode. Two things you can try

    1) The workflow by default uses gatk4.1.4.0, set the "gatk_docker" workflow parameter to use the latest version of gatk (broadinstitute/gatk:4.1.7.0). The latest version may already have a fix for this.

    2) If the latest version doesn't work try running this modified version of the workflow that removes the annotation when run on VCF mode https://github.com/gatk-workflows/gatk4-germline-snps-indels/blob/bs-hc-annot-fix/haplotypecaller-gvcf-gatk4.wdl.

     

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    ikeoluwao_o

    Hi Beri

    Thank you for your response. The first option did not work but the second one did. 

    Can I ask if it's okay to proceed with the use of the VCF output for variant annotation (VEP) or is there another GATK tool I should be implementing? From my understanding, the use of the joint genotyping workflow improves variant calling accuracy. But in its absence, is the VCF output I just produced sufficient? 

     

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    Beri

    This article should answer your other question Germline-short-variant-discovery-SNPs-Indels

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