Genome Analysis Toolkit

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

Panel of Normals (PON) Follow

3 comments

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    Stephanie Hoyt

    Hi,

    The listed PON's are vcf format, but the GATK copy number pipelines require an hdf5 file. Is there another processing step we need to do before we can use these files?

     

    Thanks.

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    vivekruhela

    Dear GATK Team,

    I am using mutect2 for somatic mutation identification from MMRF data which contains multiple myeloma (MM) samples from 5 different ethnicities. I have the only tumor, and corresponding matched normal for around 1004 MM WES samples. As per the documentation of PON,

    1. PON should be created from healthy normals with an undiagnosed tumor, which I don't have.

    2. Secondly, MM is a very heterogeneous disease that has a unique mutational signature and clonal evolution history for each ethnicity.

    So is it preferable to use PON for somatic mutation identification or rely on tumors and matched normals only? Kindly suggest.

     

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    Rahul Nahar

    Hi GATK team
    Does the PoN also help to remove additional germline variants which might be missed in a sample due to low coverage in matched normal or absence of matched normal ?

    OR do you think the germline resource provided in form of 1000genome or dbSNP vcf is sufficient for germline variant removal ?

    I ask this because I am trying to figure out if we should create a PoN with normal samples coming from different ethnicities to remove germline variants effectively. 

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