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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

HRun not found in vcf header or INFO

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    Bhanu Gandham

    Hi Mingzhou Fu,

    I am going to move your post into our Community Discussions -> General Discussion topic, as the Germline topic is for reporting bugs and issues with GATK. You can read more about our forum guidelines and the topics here: Forum Guidelines.

     

    Best,

    Bhanu

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    Genevieve Brandt (she/her)

    Mingzhou Fu the GATK annotations can be found in a list here: https://gatk.broadinstitute.org/hc/en-us/articles/4405443524763--Tool-Documentation-Index#VariantAnnotations 

    HRun is not a GATK annotation so it cannot be added with our tools. I'm not familiar enough with that annotation to know if there is a GATK annotation that would be a replacement for it.

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    Mingzhou Fu

    Hi there,

    I actually found the Hrun (named HomopolymerRun) in GATK3.8. I tried to run GATK3.8 VariantAnnotator on my VCF file generated by GATK4.

    Here's the command

    module load  gatk/3.8.0

    ref_genome=/gpfs/data/chaklab/data/HSCR_WES_2020_MF/Psomagen_2020/GATK/ref/Homo_sapiens_assembly38.fasta

    in_vcf=$in_dir/SNP.recal_99.0.INDEL.recal_90.0.vcf.gz

    gatk_bundle_sit=/gpfs/data/chaklab/data/HSCR_WES_2020_MF/Psomagen_broad_Macrogen_all/GATK_hg38_bundle

    dbsnp=$gatk_bundle_sit/Homo_sapiens_assembly38.dbsnp138.vcf

    java -Xmx180g -Xms160g -jar /gpfs/share/apps/gatk/3.8.0/GenomeAnalysisTK.jar \

        -T VariantAnnotator \

        -R $ref_genome \

        --variant $in_vcf \

        --out $out_dir/SNP.recal_99.0.INDEL.recal_90.0.extraannot.vcf.gz \

        -A GCContent -A HomopolymerRun -A HardyWeinberg \

        --dbsnp $dbsnp

    I could run it without problem, but the log file had a lot warnings - 'HomopolymerRun - Encountered a homopolymer at chr1:44140831 longer than the tool's default window size, so the position was skipped. To process this position, add --reference_window_stop to your command with a value equal or greater than 85'. 

    I want to check what exact the warning is...Just wonder if there's a webpage/toolindex for GATK3? 

    Thank you!

     

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    Genevieve Brandt (she/her)

    Yes, our support team does not currently support GATK3, but you can see GATK3 information at our legacy forum site here: https://sites.google.com/a/broadinstitute.org/legacy-gatk-forum-discussions/

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    Mingzhou Fu

    Thank you!

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