hi everyone, my own survey on what to do with my genome

[myowngenome]

Hi All,
I frequent this forum and I would like to know from y'all what you would do if you can sequence your own genome. I have arthritis and I don't expect sequencing my own genome would make me do anything different with the following 2 exceptions.
1. I can look for that darn bug that may be suspected to cause arthritis (Mycoplasma -> Rheumatoid Arthritis). I used to work for a lab that culture this little bugger. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1006269/
2. I can hang on to this genome as an insurance in case I get cancer. Arthritis patients tend to get these and I assume it is all the immuno suppressants drugs.

I put together a survey of 4 questions (com'on only 4) in which I ask the following questions. Hey, no harm no fowl if you don't care to respond. I love this forum and hope you guys continue the great work and that the ads are paying you the decent wages you deserve.

https://docs.google.com/forms/d/1fU3WZfrSgJDAAEZm8brR8lqvfRjXRIZoh-EY9uxvsP4/viewform

*** questions ***
Metagenomics of the blood (what ELSE is in my blood)
take unaligned read and align to 16S of a database of organisms

Pseudo Tumor Normal Analysis
Look for translocation events against another unrelated genome

Should I make my genome public (80GB bam for a 30X genome)
If you were me, would you share your data?

What else would you do with your genome
As I accumulate answers I'll add more multiple choices

[Knaus]

A whole genome analysis, thats a lot of work and you will likely find lots of stuff, that you don't know how to interpret. However, I have got my exome sequenced. At the instute of medical genetics and human genetics, Charité, Berlin, we are running a pilot study the Personal Exome Project. Clinicians and geneticists are getting their exomes sequenced and are confronted with the problematics how to do consulting when you detect inconclusive variants.

So we started another project, called GeneTalk (www.gene-talk.de): The variant files (VCF) of the exomes are uploaded by the participants onto their accounts and filtered. Medically relevant, rare and potentially disease-causing variants are analyzed and interpreted by the participants of the PersonalExomeProject themselfs. Whenever they find a variant that is predicted to be disease causing and they do not find any further information in the databases that are linked with GeneTalk, they provide annotations and information for that particular variant.

In one case for instance we found a homozygous variant (http://gene-talk.de/annotations/886423) in a healthy participant that was predicted to be disease-causing (framshift del in SCARF2: predicted to cause Van den Ende-Gupta Syndrome). The probability that it would be disease-related sank, thanks to a second participant in the study who had the very same variant and is also asymptomatic!


Thanks to the platform all information of this kind is stored and can be used by geneticists to filter out common varinats and to find disease causing ones.

BTW: exome data is stored in user accounts, where only the usere jhas access to it, however it can be shared with other useres to exchange expertise and for collaborations.
more than 350 Useres are already using GeneTalk and provide their knowledge to the community.


So if you consider to get your exome sequenced, you are welcome to participate in the study.

just eMail me at: [email protected]