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GATK4 Mutect2 bundle resources

igorigor New YorkMember ✭✭

Is it possible to get a description of how the gnomAD files (for Mutect2 and CalculateContamination) were generated? Additionally is possible to get some guideline on how they should be generated for non-human species (since gnomAD is human only)?

I saw the wdl script on GitHub. It's very helpful, but incomplete. For example, there is a "minimum_allele_frequency" variable that is expected as an input, so its value is unknown. Also, there is some regex that expects a specifically formatted VCF. Since gnomAD provides only chromosome VCFs, it's possible that the whole genome VCF would differ depending on how exactly those are merged. The VCF can be acquired from other sources (such as Ensembl) and that will also have slightly different fields.

More generally, af-only-gnomad.hg38.vcf.gz contains ~260M records, but small_exac_common_3.hg38.vcf.gz has only ~62K. That is very heavily filtered. That seems like extremely heavy filtering.

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Answers

  • is there a md5 to check whether my download data is complete, because I see the size has a small deviation,so I do not know whether the data is right.


    thanks a lot

  • bhanuGandhambhanuGandham Cambridge MAMember, Administrator, Broadie, Moderator admin

    Hi,

    The GATK support team is currently primarily focusing on resolving questions about GATK tool specific errors or abnormal results from the GATK tools. For all other questions, such as this one, we are building a backlog to work through when we have the capacity.

    Please continue to post your questions because we will be mining them for improvements to documentation, resources, and the tools.

    We cannot guarantee a reply, however we ask other community members to help out if you know the answer.

    For more information:

    https://software.broadinstitute.org/gatk/blog?id=24419

    https://gatkforums.broadinstitute.org/gatk/discussion/24417/what-types-of-questions-will-the-gatk-frontline-team-answer/p1?new=1

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