SEQanswers (
-   De novo discovery (
-   -   denovo mutations (

Mr.Zurich1992 03-31-2016 08:36 AM

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?

Richard Finney 03-31-2016 09:33 AM

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.

Mr.Zurich1992 04-13-2016 03:16 PM

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!

All times are GMT -8. The time now is 06:49 AM.

Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2021, vBulletin Solutions, Inc.