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

Bergmann, Sven ; Baillie, J. Kenneth ; Bretherick, Andrew ; Haley, Christopher S. ; Clohisey, Sara ; Gray, Alan ; Neyton, Lucile P. A. ; Barrett, Jeffrey ; Stahl, Eli A. ; Tenesa, Albert ; Andersson, Robin ; Brown, J. Ben ; Faulkner, Geoffrey J. ; Lizio, Marina ; Schaefer, Ulf ; Daub, Carsten ; Itoh, Masayoshi ; Kondo, Naoto ; Lassmann, Timo ; Kawai, Jun ; Mole, Damian ; Bajic, Vladimir B. ; Heutink, Peter ; Rehli, Michael ; Kawaji, Hideya ; Sandelin, Albin ; Suzuki, Harukazu ; Satsangi, Jack ; Wells, Christine A. ; Hacohen, Nir ; Freeman, Thomas C. ; Hayashizaki, Yoshihide ; Carninci, Piero ; Forrest, Alistair R. R. ; Hume, David A.



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 similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci ...

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