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Genetic Epidemiology And Mendelian Randomization For Informing Disease Therapeutics: Conceptual And Methodological Challenges

By Lavinia Paternoster, Kate Tilling, George Davey Smith

Posted 08 May 2017
bioRxiv DOI: 10.1101/126599 (published DOI: 10.1371/journal.pgen.1006944)

The past decade has been proclaimed as a hugely successful era of gene discovery through the high yields of many genome-wide association studies (GWAS). However, much of the perceived benefit of such discoveries lies in the promise that the identification of genes that influence disease would directly translate into the identification of potential therapeutic targets, but this has yet to be realised at a level reflecting expectation. One reason for this, we suggest, is that GWAS to date have generally not focused on phenotypes that directly relate to the progression of disease, and thus speak to disease treatment.

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