An Assyrian genotype for the taking (and more)

When my friend offered to allow me to throw his 1,000,000 marker genotype out into the public domain last week I did understand that this would be of marginal utility in and of itself. After all there are many Ashkenazi genotypes out there, and he didn’t give any phenotypic information. That being said, I didn’t think it would hurt. And second, I wanted to encourage others to throw their own data out there. My rationale is partly driven in the medium term by the issues which Joe Pickrell outlined a few months ago, Why DTC genetic testing is good for research.

In the larger context there’s a lot of fear out there (thanks Ethan Hawke!). I think it’s unfounded, and unless some of us dispel the fear by taking proactive steps I think we’re stuck in a coordination problem. It seems likely that what looms in front of us is radical transparency. Genotypes are just the tip of the iceberg, but we need to be prepared. Britain’s surveillance state probably gives us a taste of this future (good or bad). But, I have a hope that enormous sample sizes driven by “crowd-sourced” personal genomes may actually allow us to explore more thoroughly the associations between genotypes and diseases. In the late 1990s there was a lot of buzz about bringing “information technology” to health. The kind of stuff that MicroStrategy oversold in the interests of its stock price. I believe that we’re still not “prime-time” for this sort of stuff even now, a decade after the .com bubble, but the day will come soon. Democratizing the process of information production and analysis (from genomics to biomarker self-monitoring) may finally allow us to push past the problem of false positives which John Ioannidis highlighted.

So now a few genotypes for your perusal.

Blaine Bettinger has a literal genotype “core dump” up now. Since Dr. Bettinger is also a patent attorney I’m more reassured about the legality of this.

Second, something new and non-trivial. I’ve uploaded a compressed file with three genotypes. Two of them are anonymous by name. One is of an Appalachian white female. Nothing too exotic. The other is from a Tamil Brahmin (Iyer) male. I’ve named the files appropriately. Finally, I’ll let the last individual speak:

…I would like to release my 23andMe genome file into the public domain. If you would like to publicize it on your blog, feel free to identify me by my real name, Paul Givargidze. You may wish to make a note that my name was changed from Givargis (“George” in our Aramaic dialect) to a traditional Georgian name a number of decades ago, during my grandfather’s time in the Soviet Union. And, in order to hopefully avoid people commenting on the post and questioning the nomenclature, perhaps “Assyrian Christian” would be a better identifier. I have an Armenian 2nd great-grandparent, so, quantifying my ancestry, it would be 15/16 = Assyrian Christian, 1/16 = Armenian. And, if you wish to associate me with something relevant to the genetics world, feel free to mention I am a volunteer admin of the Assyrian and Aramaic DNA projects at FTDNA.!/AramaicDNA

So there you have it. Paul Givargidze’s 1 million markers are there for the taking! It’s named appropriately.

You can get the files here. Please select the “slow download” option (you don’t want Rapidshare Pro), wait a minute or so, and get the file. It’s 23 MB, so you’ll have it within a few minutes.

If you want to email me your genotype to publicize, it’s contactgnxp -at- gmail -dot- com.

If you want to figure out what to do with the genotypes, see this post.

Source: Discover Magazine – Gene Expression