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Stephen Shoebridge

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Bioinformatician at the Medical University of Vienna

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Latest activity by Stephen Shoebridge
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    Stephen Shoebridge commented,

    1. Community
    2. Documentation Questions
    3. JointGermlineCNVSegmentation (BETA)

    Thanks, Definitetly looking at the clustering may be a the means to calibrating our results. Thanks for the quick response. Best, Stephen

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    Stephen Shoebridge created a post,

    JointGermlineCNVSegmentation (BETA)

    1. Community
    2. Documentation Questions

    a) GATK version used: 4.5b) Exact command used:      JointGermlineCNVSegmentation \     --reference /mnt/ref/$bwa_reference \     --arguments_file /mnt/output/vcf_seg_samples.txt \     --mo...

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    Stephen Shoebridge commented,

    1. Tool Index
    2. 4.5.0.0
    3. JointGermlineCNVSegmentation (BETA)

    Hi, Could you briefly describe how the merging of segments works as we have two segments that overlap with one being slightly longer, but they differ in DEL/DUP calls (see below). We are just confu...

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