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SaulGoodman

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Posts posted by SaulGoodman

  1. Hello all together,

    I have a question that explicitly refers to a SNP that is calculated to have a damaging/deletious effect.

    Now I ask myself whether this effect should also be seen in the IGV? It is exactly this SNP (https://varsome.com/variant/hg38/chr2-165315571-C-T?).

    Can anyone give me tips on how to track down the SNP and tell me more precisely whether the calculations are correct?
    I have the sample in front of me, a screenshot is attached.

    And if I should be completely on the wrong track I would also like to know why. I want to learn

    I thank you in advance to everyone who gives me an answer here.

     

    Screenshot 2023-07-17 at 10.47.36.png

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