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Officials last week revealed that the U.S. contribution to ITER could cost $3.9 billion by 2034—roughly four times the...
An experimental hepatitis B drug that looked safe in animal trials tragically killed five of 15 patients in 1993. Now,...
Using the two high-quality genomes that exist for Neandertals and Denisovans, researchers find clues to gene activity...
A new report from the Intergovernmental Panel on Climate Change (IPCC) concludes that humanity has done little to slow...
Astronomers have discovered an Earth-sized planet in the habitable zone of a red dwarf—a star cooler than the sun—500...
Three years ago, Jennifer Francis of Rutgers University proposed that a warming Arctic was altering the behavior of the...
- 17 April 2014 12:48 pm , Vol. 344 , #6181
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New Dustup Over Genome-Scanning Studies
30 April 2010 11:14 am
A harsh takedown of a popular type of human genetics study in the pages of Cell has prompted a chatter of commentary online, and at least one researcher plans to submit a response to the journal. Psychiatrist Jon McClellan and geneticist Mary-Claire King, both of the University of Washington, Seattle, wrote earlier this month that genome-wide association studies (GWAS), which scan large stretches of the genomes of hundreds of people for common gene variants driving common diseases, aren't getting us very far. "It is now clear that common risk variants fail to explain the vast majority of genetic heritability for any human disease," they wrote in an essay, arguing that many of the hundreds of GWAS findings to date "stem from factors other than a true association with disease risk." In other words, they're not conveying anything about one's likelihood of developing ailments such as diabetes, heart disease, or cancer.
The two listed a number of reasons for this but said that ultimately it comes down to biology. They believe that common variants simply don't have much to do with most diseases studied in GWAS. Instead, McClellan and King think we ought to pay more attention to rare variants that arose in our genomes relatively recently. (King is famous for discovering one such variant, the breast cancer gene BRCA1).
"Although I wholeheartedly agree that rare variants play a substantial role in human diseases, I also think that the section on GWAS reflects misunderstandings of the concept of GWAS, ignorance of standard practices in GWAS, misinterpretation of published primary research data, and as a result, is misinforming the general readership of Cell," wrote Kai Wang, a postdoc at Children's Hospital of Philadelphia whose papers were cited in the Cell article. Like many others, he believes that GWAS have had a major impact on our understanding of the human genome, and he plans to send comments to Cell.