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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

GenotypeGVCFs issue when using --include-non-variant-sites parameter

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    Gökalp Çelik

    Hi Hugo DENIS

    Can you add -L ${CONTIG} parameter also when you have --include-non-variant-sites true parameter as well. 

    EDIT: I have tried this and you might still get an error but a different one. The best solution would be to have a bed/interval_list file to cover the whole contig from 1st base to the last given as a parameter to GenotypeGVCFs -L. 

    This looks like the only current solution. I will consult with the team and we may have a corrective PR for this behavior and we may push more description and requirement for that parameter. 

    EDIT2: This second error only occurs if your GenomicsDBImport folder name is the same as your contig name. If not you can use -L ${CONTIG} as parameter

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    Hugo DENIS

    Dear Gökalp, 

     

    Thank you very much for your help. When specifying -L ${CONTIG} it works perfectly, as long as the working directory is not the same as the one where the GenomicsDBImport folder is located, because of name conflicts as you reported (or one would need to change the GenomicDBimport folder name). 

    I have now been able to run GenotypeGVCFs on all chromosome and outputting all sites. 

    Again thank you very much for your support, 

    Best

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