Article
Mining the human phenome using allelic scores that index biological intermediates.
PLoS genetics - 1 Oct 2013
Evans David M, Brion Marie Jo A, Paternoster Lavinia, Kemp John P, McMahon George, Munafò Marcus, Whitfield John B, Medland Sarah E, Montgomery Grant W, Timpson Nicholas J, St Pourcain Beate, Lawlor Debbie A, Martin Nicholas G, Dehghan Abbas, Hirschhorn Joel, Smith George Davey
Abstract excerpt
It is common practice in genome-wide association studies (GWAS) to focus on the relationship between disease risk and genetic variants one marker at a time. When relevant genes are identified it is often possible to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically explain small amounts of disease risk. Our idea is to construct...
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