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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 for microbes

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    Gökalp Çelik

    Hi Ruqaiya Tasneem

    We have a github repository and dockstore repository for microbial variant calling. 

    You may be able to checkout wdl workflows from the links below

    https://github.com/broadinstitute/GATK-for-Microbes 

    https://dockstore.org/workflows/github.com/broadinstitute/GATK-for-Microbes/MicrobialGenomePipeline:master?tab=info 

    Once you try out if you have any questions let us know so we can take a look at it. 

    Regards. 

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    Ruqaiya Tasneem

    Hello @Gökalp Çelik

    Thank you for the suggestion!

    I have tried this workflow. The main problem i encountered was that i was to apply filter ( i think it was for MQ or something similar ) and the vcf file generated by mutect2 doesnt have it, so i had to switch to Haplotypecaller. Even though it's not suggested to use for bacterial genome but i changed the --sample ploidy to 1, not sure if that would make a lot of difference while handling bacterial genome.

    Further suggestions are most welcomed.

    Regards.

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    Gökalp Çelik

    HaplotypeCaller and Mutect2 use different set of annotations therefore filtering methodologies are not similar. Mutect2 uses FilterMutectCalls primarily therefore it has its own filtering models. Using --microbial-mode parameter during FilterMutectCalls step is specifically crafted for this purpose. 

    We do not recommend using HaplotypeCaller for microbial calling since impurities and intra-sample variation will cause unexpected variant calls which may not really reflect correctly what is inside the sample you have. 

    I hope this helps. 

    Regards. 

     

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    Ruqaiya Tasneem

    Gökalp Çelik  

    I will work on the suggested pipeline and let you know. Also, does Funcotator annotate bacterial genome? If not, which other annotating tool is compatible with mutect2 vcf format ?

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    Gökalp Çelik

    Hi Ruqaiya Tasneem

    We may not have the proper annotation sources pre-compiled for your organism of interest therefore you may need to create your own or you may use other annotation sources such as snpeff, VEP etc. many of which contain pre-compiled sources for functional and ontological annotations. 

    I hope this helps. 

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