denovo mutations

Mr.Zurich1992 · 03-31-2016, 08:36 AM

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!

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03-31-2016, 08:36 AM	#1
Mr.Zurich1992 Member Location: Switzerland Join Date: May 2013 Posts: 20	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?

04-13-2016, 03:16 PM	#3
Mr.Zurich1992 Member Location: Switzerland Join Date: May 2013 Posts: 20	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! Last edited by Mr.Zurich1992; 04-13-2016 at 03:19 PM.

03-31-2016, 09:33 AM	#2
Richard Finney Senior Member Location: bethesda Join Date: Feb 2009 Posts: 700	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.