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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

Mutect2 include MNPs

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    Bhanu Gandham

    Hi L. A. Liggett

     

    This is a known issue and we looking into this. However, it will help us fix this faster if you could share your input BAM file. You can find instructions for sharing BAM here: https://gatk.zendesk.com/hc/en-us/articles/360035889671

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    L. A. Liggett

    Thanks Bhanu Gandham, I did upload (named `liggett_3_12_20.zip`) the vcf and index with the error log since it looks to me that the error is in processing chr10:60784794 from the vcf. Does this work, or would you also like the associated bam file?

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    Bhanu Gandham

    Hi L. A. Liggett

     

    Thank you! We are looking into this.

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    L. A. Liggett

    Bhanu Gandham it looks like this error can be solved by passing `--max-mnp-distance 0` when building the panel of normals. However, this option is not available in the best practices workflow that I'm using. I'm passing the argument into the `m2_extra_args` field in the workflow as `"--max-mnp-distance 0"`. However, this returns the error: 

    `A USER ERROR has occurred: Argument max-mnp-distance has a bad value: 0--max-mnp-distance. Problem constructing Integer from the string '0--max-mnp-distance'.`  

    Is there a way to pass in the argument into the workflow?

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    Bhanu Gandham

    Hi L. A. Liggett

     

    Someone from the workflow team will be in touch shortly to help you out with  a way to pass in the argument into the workflow. 

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