Saturday, September 15, 2012

Make my Exome Public

Hello, I'm Eric Uhden and I am one of the early adopters of the 23andme Exome Pilot project. I'm an amateur when it comes to the exome but I am eager to learn more! I'd like to make my exome public data and have more interpretations of it. Whenever I have a free chance I am learning about the exome, genome, micro biome, and things of similar sorts.

I've been asked if it is safe to have my exome information public. My opinion is that if my data is public then there is a chance more can be learned from the data for myself and others. While I enjoy my privacy, I feel my exome is not mine to keep. It is a part of something much larger than myself and that for the scientific world it can help move things along towards curing diseases and enhancing lives.

So far I have donated my exome sequence to the Personal Genome Project and had Promethease analyze the data. What else can I do with my exome data? Please ask if you are interested in my exome data and I will be happy to share it. 


I'd like to share some of the important parts of my 23andme exome summery:


I'm not as interested in the details of this part of the exome sequencing but I do like that it is included to explain the quality of the exome sample. The more data about the exome and process, the better! Also, it will be nice when the exome and genome will be perfectly sequenced every time. 




This graph to me is awesome! The disproportion of unknown variants to the known is staggering! I wonder if in 10 years that the complete exome will be fully sequenced and understood. Maybe it will be on our iPhones of the future and we can reference it for everything!




This is an explanation of how the High, Moderate, Low and unknown variants are classified. 



This figure is one of the most amazing in the whole summery because it shows the number of novel genes unique to me. Those are just some more things that make me, me. 



My first impression of this flow chart was that I didn't like it. There seemed to be so many numbers and letters everywhere like a big mess. Then when I focused my eyes and started at the top it was extremely simple and I ended up loving the chart! This just makes so much sense now. The chart again shows that we are in the infancy stage of the "exome age". We will see so much growth of exome knowledge in the coming years. The full-reaching consequences are mind blowing from the medicines/foods/chemicals we will take, to how they are metabolized and how they will effect our bodies into old age! The best part is that the information will be personalized to each individual. 


Notice in the bottom left of the flow chart it say 20 variants have been selected to go further. The rest of the 23andme summery then looks like this:

Here is variant 1 of 20. The blue letters are links for deeper information that I find tedious and do not have the background to understand. But it is a lot of fun to learn something new that is a huge challenge. 

Please contact me for any questions. 

2 comments:

  1. Hi, is your exome data available on the GET-Evidence site? I uploaded my vcf file there.

    ReplyDelete