Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges

Lavinia Paternoster, Kate Tilling, George Davey Smith*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)

48 Citations (Scopus)
308 Downloads (Pure)

Abstract

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 realized 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.
Original languageEnglish
Article numbere1006944
Number of pages9
JournalPLoS Genetics
Volume13
Issue number10
DOIs
Publication statusPublished - 5 Oct 2017

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    MRC UoB UNITE Unit - programme 4

    Davey Smith, G. & Evans, D.

    1/06/131/04/18

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    MRC UoB UNITE Unit - Programme 1

    Davey Smith, G.

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    IEU Theme 3

    Windmeijer, F., Tilling, K. M. & Tilling, K. M.

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