Wednesday, October 7, 2009

What's the HapMap??

While clicking through the blogosphere earlier this week, I came across a project that seems to be an extension of the National Human Genome Research Institute. It's the International HapMap Project, with the intended focus to find "genes that affect health, disease, and individual responses to medications and environmental factors". The US, Canada, China, the UK, Nigeria, and Japan are collaborating on the research with public and private funds. Because it started in 2002, phase one of the project finished in 2005, with Phase II ending in 2007. I am interested in how accessible the data is and process of the project, which seems fairly documented.

The core of this project is to share information. The website says: "The International HapMap Project is not using the information in the HapMap to establish connections between particular genetic variants and diseases. Rather, the Project is designed to provide information that other researchers can use to link genetic variants to the risk for specific illnesses, which will lead to new methods of preventing, diagnosing, and treating disease."
Very commendable! It appears that this consortium is so expectant that their data will be used, that they offer tips on how to cite the project, especially how to refer to the sample populations (from Nigeria, Japan, Utah, etc). There is also a push to publish, as "researchers are encouraged to publish results based on combining HapMap data with data from other projects, particularly in efforts to find genes affecting a disease or a drug response. Researchers also are encouraged to use HapMap data to publish on the development of novel methods to analyze polymorphism, linkage disequilibrium, and association data."

Why all the good will? Is it because this is funded through the NIH? And must scholars who integrate the HapMap data with their own research make that data available? Interested in how much the data is being used, I looked at the site's publication page, but that hadn't been updated since 2007 when their last phase ended. So I went to GoogleScholar (gasp!) so I could just do a quick look up and found that the HapMap site has been cited 160 times. That could be good!

If I could even slightly understand anything about this project, I might be tempted to download the data (they provide tutorials!). Instead I just looked at the page from whence the files could come and was confused. There is a place to upload your own data, which I'm not sure I think is a particularly good idea, since their research seems quite controlled (270 participants only). I'm assuming the HapMap data and others' data is separate.

The International HapMap Project appears to be an example of a successful data-sharing hard science project, although its proximity in topic and funding agency to the Human Genome Project might also account for that. From an outsider's perspective, HapMap appears to have a socially conscious purpose (healing sick people, yay!) with an integrative approach to the data and publishing.

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