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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

gatk CombineGVCFs output contains only one Chr

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    Gökalp Çelik

    Hi Faezeh Darbaniyan

    Looking at the log that you provided somethings just raised a flag immediately

    This particular line does not seem to be a GVCF variant context. It lacks specific GVCF items inside

    chr1:960463 Q73.64 of type=SNP alleles=[G*, T] attr={AC=1, AF=0.500, AN=2, BaseQRankSum=-0.967, DP=3, ExcessHet=0.0000, FS=0.000, MLEAC=1, MLEAF=0.500, MQ=60.00, MQRankSum=0.000, QD=24.55, ReadPosRankSum=-0.967, SOR=0.223} GT=GT:AD:DP:GQ:PL 0/1:1,2:3:36:81,0,36 filters=

    Can you check if all your input VCFs are actually GVCF? You may check their header sections and see if they contain all identical information for fields. 

    Regards. 

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    Faezeh Darbaniyan

    Hello,

    Thank you so much for your quick reply!

    They are not gvcf. In fact they are in form of vcf. Does it cause an issue?

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    Gökalp Çelik

    CombineGVCFs only accept GATK GVCF format therefore anything that is not GVCF cannot be combined. 

    Regards. 

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    Faezeh Darbaniyan

    Thanks again!

    Is there any way to combine vcf files in gatk? Do I have to repeat the previous step (HaplotypeCaller) and create gvcf file?

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    Gökalp Çelik

    There may be other tools present for that but results may not be optimal. 

    I would suggest you to use 

    bcftools merge

    GATK used to have a tool named CombineVariants in GATK 3.x era but it is deprecated and we no longer support it.

    Regards. 

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    Faezeh Darbaniyan

    Thank you!

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    Faezeh Darbaniyan

    In case that I redo gatk Haplotypecaller to get gvcf file, what is the best way to turn the combine.gvcf into vcf format?

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    Gökalp Çelik

    Once GVCFs are collected in the form of a Combined GVCF or GenomicsDB you may use GenotypeGVCFs tool to get the result as a multi-sample VCF file ready for further filtering and analysis. 

    Regards. 

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