Just Downloaded a File Containing my Raw Genome Data. Now What? (Updated)

by Andrew Meyer on May 4, 2008

23andme download buttonI’ve downloaded plenty of mp3 files to my desktop over the years, but I’ve never downloaded a file containing my raw, uninterpreted genome data. Until today.

23andMe lets you download a zipped, text file containing 500,000+ lines of your genotype call data. It’s all the raw, uninterpreted data they pull from your saliva.

All. on. one. 5mb. zipped. file. And, about 14.2mb unzipped.

23andme download files

Why did I download the raw data file instead of keeping it protected behind the layers of encryption over on the 23andMe servers?

No particular reason. Just curious to see what a file containing 500,000+ lines of my genotype call data looks like.

Here’s what it looked like when I opened it in TextEdit (Note: This is just the first 7 of 500,000+ lines):

23andme raw genome data file

I’ll probably use the Promethease tool the guys over at SNPedia built as soon as they create a Mac version.

Does anyone know anything else I can do with my downloaded text file containing 500,000+ lines of my genotype call data?

I’m up for interesting suggestions.

Update: See Mike Cariaso’s (of SNPedia) comment below regarding uploading data and getting results from MyFamilyHealth.

  • I have gotten the results back. The first thing I should mention is that while I greatly appreciate people who are so open with their genome, I didn't actually upload my own data, I uploaded data from 23andMe's Greg Mendel profile. The company behind this effort is Genseq which is based in Malaysia. There appears to be 24 public user profiles on the site, Although a few of those appear to be dupicates or test users. I'll be curious to hear if anyone can see the 'cariaso' profile, since I've done nothing to share it. A lot of the site emphasis seems to be on creating family trees linked to a manually entered medical history.


    The UI is a little rough, but functional. Some of the artwork is quite good, but the look&feel of the dynamic elements isn't nearly as pretty. There are several visualizations, a relative risk which does not seem to render for me, a sized/colored ATCG (which seems a poor choice for what I think it wants to convey) as well as a 'visible human' style map which responds to mouse-overs and clicks. The last element is particularly well done, but seems more eye candy than scientific rigor. Notably visualizations in one of the main windows disappears when elements are moved outside the bounding box.

    They appear to track 22 medical conditions which are classified as either high or low confidence, and for each there is a red/yellow/green high/med/low risk assignment. These also provide a % risk for european/asian/african populations vs 'my' data. Generally the site does link to pubmed, to backup the claims. I find the lack of an rs# makes it difficult to verify specific claims, but that is partly my bias showing through.

    It all seems reasonable enough, but I'm not exactly overwhelmed. In fairness I've got a certain bias due to promethease, which is often similarly criticized.
  • Mike, thanks for excellent comment. This really helps as MyFamilyHealth doesn't provide much of a service preview.

    I'm thinking I'll stick to playing w/ Promethease for now.

    Btw: I didn't run across your profile in the community section.
  • I've gotten a personal email indicating that they are working on it. I'll share what I learn.
  • I've registered and uploaded a genetic profile. It wasn't clear until after the upload, but I now see the message:

    "Hi ,
    Upload your data here and in a few weeks you can analyse your data usingMyFamilyHealth tools and services for FREE! "

    Since the upload also had a text box labeled:

    "Please tell us some detail of your data, such as:
    i. From where did you acquire this data.
    ii. The data format or specification.
    iii. Any related details. "

    It would seem likely a human (mayhap swswsu) will read that file and do your analysis.
  • Interesting. I'll probably upload my 23andMe file and see what they can tell me.

    Mike, have you gotten your MyFamilyHealth results back yet?
  • swswsu
    Hey Andrew,

    By chance did you upload the data to MyFaimilyHealth.com?
    I am just curious to know; what could they do with your Genotype data?
    Will that be same or different from 23andMe and DecodeMe results?
  • I didn't upload my data yet. I'm trying to find more info about this company first. Their site seems a little unprofessional.
  • swswsu
    You must try this interesting option.

    Upload to www.myfamilyhealth.com/health/dna. They would take 24hrs to analyze your SNP data.

    Most of all, it is FREE.

    Remember to login/create an account to upload the data and then re login to your account to explore the analyzed data sets.
  • Thanks, I'll check MyFamilyHealth out.
  • quagmeyer
    Hey Andrew,

    I am glad to know my $50 didn't just go for cheeseburgers or something like that. Do I get the file to play with too? Is there some kind of genetic dna file type standard like jpeg or mpeg or whatever so I can get some software to manipulate it with?

    Uncle Jim

    Eventually, I will want to clone you (with some alterations of course) so do I have any license agreements prepared where we have to give you royalties or anything?
  • Haha to be honest about $37 was spent at In & Out. Just kidding.

    As for cloning, I'm thinking we can just work out some sort of indentured servitude program for a couple of them. I'm not too greedy.

    Go to this post and it will tell you how I can share my results with you.
  • I just tried to click on that download raw data image
    oops
  • Haha. It would be the most horribly boring file you've ever downloaded from the Internet.
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