A hard takedown of a popular type of the study of human genetics in the pages of Cell has generated reviews online chatter, and at least one researcher plans to submit a response to the review. Jon McClellan psychiatrist and geneticist Mary-Claire King, both of the University of Washington, Seattle, wrote earlier this month that the genome-wide association studies (GWAS), which scan large areas of hundreds of genomes people for common drive variants common gene diseases, receive us very far. "It is now clear that the common risk variants fail to explain the vast majority of genetic heritability for human disease," they wrote in an essay arguing that several hundreds of GWAS findings to date "come from factors other than a true association with disease risk." in other words, they are not transporting anything about his risk of developing diseases such as diabetes, heart disease or cancer.
both contained a number of reasons for this, but said that ultimately it boils down to biology. They believe that common variants simply do not have much to do with most diseases studied in GWAS. instead, McClellan and King think we should pay more attention to rare variants that arise in our genomes relatively recently. (King is famous for the discovery of such a Alternatively, the breast cancer gene BRCA1 ).
"While I fully agree that rare variants are important in human disease, I also think that the section on GWAS reflects misunderstanding of the concept of GWAS, ignorance practices standard in GWAS, misinterpretation of published primary research data, and therefore is misinforming the general readership of cell , "wrote Kai Wang, a postdoc at the Hospital of Philadelphia children 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 plans to send comments to Cell .
Others in the community buzzing on paper here, here, and here.
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