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What intervals were used to create GATK's reference panel of normals for WGS CNV calling?

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    Pamela Bretscher

    Hi Tracy Ballinger,

    Thanks for writing in. Could you take a look at this previous forum post related to the same issue? It looks like it may be the same problem occurring here. Could you try the suggestion by Samuel in that post and let me know if it is helpful?

    Kind regards,

    Pamela

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    Tracy Ballinger

    Hi Pamela, 

    I am having a different issue because I'm trying to use a panel of normals that has already been constructed and made available through GATK.  I don't have my own panel of normals, so I'm trying the available resource I found referenced in the gatk workflow "gatk4-somatic-with-preprocessing/FullSomaticPipeline_public-urls.json" with this link: gs://gatk-test-data/cnv/somatic/PoN_4.0_WGS_for_public.pon.hdf5

    I was struggling to find which intervals were used to construct this or any other documentation on it.  I have since been able to get the intervals from the hdf5 file, but any documentation on how the GATK PoN_4.0_WGS_for_public.pon.hdf5 was constructed would still be appreciated.  

    kind regards,

    Tracy

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    Pamela Bretscher

    Hi Tracy Ballinger,

    Okay, thank you for clarifying and I'm glad that you were still able to find the intervals. At the moment, I don't believe we have documentation about explicitly how the panel of normals and intervals were constructed. However, you can find some general information about how the Broad creates the public panel of normals and how WGS intervals are determined in the Panel of Normals and Interval and Interval Lists documentation. Please let me know if this is helpful and if you are still experiencing any issues with running the pipeline.

    Kind regards,

    Pamela

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    Vincent YU

    I think Tracy raise a great question, 

    If you only provide the PON but not what interval were used to generate the PON, then Denoise will error.

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