Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

Kenneth Baillie; Andrew Bretherick; Christopher Haley; Sara Clohisey; Alan Gray; Jeffrey Barret; Eli Stahl; Albert Tenesa; Robin Andersson; Ben Brown; Geoffrey Faulkner; Marina Lizio; Ulf Schaefer; Carsten Daub; Masayoshi Itoh; Naoto Kondo; Timo Lassmann; Jun Kawai; Vladimir Bajic; Peter Heutink; Michael Rehli; Hideya Kawaji; Albin Sandelin; Harukazu Suzuki; Jack Satsangi; Christine Wells; Nir Hacohen; Thomas Freeman; Yoshihide Hayashizaki; Piero Carninci; Alistair RR Forrest; David Hume; IIBDGC Consortium; FANTOM5 Consortium

Journal article

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

Kenneth Baillie, Andrew Bretherick, Christopher Haley, Sara Clohisey, Alan Gray, Jeffrey Barret, Eli Stahl, Albert Tenesa, Robin Andersson, Ben Brown, Geoffrey Faulkner, Marina Lizio, Ulf Schaefer, Carsten Daub, Masayoshi Itoh, Naoto Kondo, Timo Lassmann, Jun Kawai, Vladimir Bajic, Peter Heutink Show all

Published : 2016

DOI: 10.1101/095349

Abstract

Abstract Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share patterns of transcriptional regulation. Accordingly, shared transcriptional regulation (coexpression) may help prioritise loci associated with a given trait, and help to identify the biological processes underlying it. Using cap analysis of gene expression (CAGE) profiles of promoter and enhancer-derived RNAs across 1824 human samples, we have quantified coexpression of RNAs originating from trait-associated regulatory ..

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