Feb 10, 2013

The future of genome data mining

23andMe is a startup based in Mountain View, California. Founded in 2006, its core business is genome sequencing for individuals, and providing additional information on your ancestry and possible disease risk, which you can access on their website. 

The cost of sequencing a person’s genome used to be prohibitive. However, 23andMe with its deep pocket of venture and personal funding (Co-founder Ann Wojcicki is the wife of Google co-founder Sergey Brin), was able to cut the sequencing price from $999 in 2007 to $399 in 2008, then to $299 until end of 2012. In December 2012, with $50 Million Series D funding, 23andMe slashed the price to $99 per person. Such price is probably below their actual testing cost. Why the price cut? 23andMe states that their goal is to get 1 million people participate.

What is the drive behind the large expansion of the user base? The first potential is disease discovery. With a large population, a disease can be more solidly linked to genome data. Suppose we find gene mutation in 1 diabetes patient, it is not enough to conclude that the mutation caused her diabetes. However, if we find the same gene mutation in 1000 diabetes patients, we can be more confident to draw this conclusion. Ultimately it is getting a large enough size of population sample so that we can uniquely link a segment of the gene mutation or ancestral traits to a disease.

By December 2012 (before the price slash), 23andMe has accumulated 180,000 individual genome profiles [1]. So far, this is the largest dataset any one organization has accumulated on human genomes. Combined with the self-reported health profiles of these customers, studies of disease link to gene patterns can be done more conclusively.    

23andMe has partnered with Genentech to study a range of diseases from Alzhermer’s, to breast cancer, and (mostly recently) Avastin. In addition, the company received a small funding from NIH to study allergy and asthma. Given the large population data of genomes, we could see some exciting discovery.

Data mining will play a big role in these new discoveries. Note only data mining enables pattern discovery in a large data where there are many different diseases and persona traits, it can also create predictive models on disease onset related to person’s genome profile. The feature selection technique from data mining also has worked well on genome study where there are more than 20,000 gene features but only a few data points. Even with 1 million people in the data, the problem of small data points could still exist when only a small of group of people have similar diseases (Thus it is important to get even data from more people, ideally tens of millions or even billions).

The future of genome study is closely linked to data mining. This is an exciting time to be a data miner.

[1] 23andMe press release, “23andMe Raises More Than $50 Million in New Financing”, December 11, 2012.


  1. That was good learning!... I have been collecting information from different Genome Sequencing Services providers. This was helpful too... Thanks

  2. This is very helpful for About Data Mining

  3. Terimakasih atas obat ginjal bocor informasinya sangat bermanfaat. pengobatan vitiligo herbal Salam sukses selalu makasih infonya. kalau obat tradisional radang usus 12 jari ada waktu datang ke blog saya ya.

  4. Although seem harga obat kuat sex trivial, the habit of drinking obat ginjal bocor water can help digestion and increase metabolism cara mengobati ginjal bocor drink 8-10 glasses of water / day in order not to hoard calories and fat in the body.

  5. know if I like this or I obat tahan lama bercinta don’t know I'm so be it and as I do that a nice on I don't know which 1i obat tahan lama bercinta like better I'm so useless 18 a dusty job you know but I have to try this one out more putdown yes this is he activated so that's what they sometimes vig power capsule at me here I

  6. Liability doubt chitosan capsule twist use of in me as a chitosan capsule come to an end lay up as in the omnibus of my not consist distributor obat herbal of title of chap an stand for being being living being cara mengatasi ejakulasi dini venerable man costs wage self employment being a fair

  7. Want to know about how to use facetime for pc then click
    advantage of using facetime

  8. All the best blogs that is very useful for keeping me share the ideas
    of the future as well this is really what I was looking for, and I am
    very happy to come here. Thank you very much
    earn to die
    earn to die 2
    earn to die 3
    Hi! I’ve been reading your blog for a while now and finally got the
    earn to die 4
    courage to go ahead and give youu a shout out from
    earn to die 6
    Austin Texas! Just wanted to tell
    earn to die 5
    Hi! I’ve been reading your blog for a while now and finally got the
    happy wheels
    strike force heroes
    good game empire
    you keep up the fantastic work!my weblog
    age of war

  9. A teenage hacker has found a way to circumvent the phone’s security and restrictions, jailbreaking a brand new iPhone 7 running iOS 10, effectively taking full control of it and allowing him to install apps not approved by Apple. The 19-year-old hacker, who’s known online as qwertyoruiop but whose real name is Luca Todesco, to get his invention iPhone7 Jailbreak go to CydiaNerd.

  10. To Wish your friend with amazing quotes in New Year 2017, visit my blog New Year 2017 Wishes

  11. Have you ever thought about writing an ebook or guest authoring on other blogs?
    I have a blog centered on the same ideas
    you discuss and would love to have you share some stories/information. I know my
    audience would appreciate your work. If you are even remotely
    interested, feel free to send me an e mail.... My Web : Master Seo Blog Coretan Review Ernawati Blog Coretan Review Ernawati


  13. You’ve written nice post, I am gonna bookmark this page, thanks for info. I actually appreciate your own position and I will be sure to come back here. obat asam lambung

  14. Gurgaon escorts have been in the industry for a long period of time and are here to entertain the clients so that they can be retained here for a brief period. Independent Escorts in Gurgaon

  15. I like the post format as you create user engagement in the complete article. It seems round up of all published posts. Thanks for gauging the informative posts.
    cara menggugurkan kandungan

  16. shocking content material persons and a faithfulness of passion will be simply by simply and large collectively designed for your articles this may come to be on a unimaginably Call Girls agency in Mumbai focal level unbelievable. a determination of gratefulness is normally all alongside one another for your info!