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denovo mutations



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  • denovo mutations

    How can I know that a shown de novo mutation is really a right positive de novo mutation?

    How I can know that a shown de novo mutation is false positive?

  • #2
    You can visualize it.

    Often visualization of a region around a snp can give a good clue as to what's going on.

    Some are "slam dunks", others are "well .. maybe" and others are "nope".

    I suspect that attempts to make 99% accurate calling is frustrated by several things: repeats, homo-polymer runs, inaccurate reference, near duplicate regions, chemistry problems, etc. It takes a bit of practice, but a quick, but knowledgeable eye can spot some problems.


    • #3

      Because there is a terrible genetic problem in my case. Something biochemocally is going wrong in my body. There is a defective gene in my genome. Sbould be idemtified to success further in life. There os the possibility that a de novp mitation causes it.

      I showed terroble gender atypical behavior when I was younger almost trans******ity. I also do look weird on class photos.

      No doubt a genetic trouble is existing!
      Last edited by Mr.Zurich1992; 04-13-2016, 02:19 PM.


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