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?

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.

cause
 

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 transsexuality. I also do look weird on class photos.


No doubt a genetic trouble is existing!