Article
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression.
Nature - 5 May 2016
Soldner Frank, Stelzer Yonatan, Shivalila Chikdu S, Abraham Brian J, Latourelle Jeanne C, Barrasa M Inmaculada, Goldmann Johanna, Myers Richard H, Young Richard A, Jaenisch Rudolf
Abstract excerpt
Genome-wide association studies (GWAS) have identified numerous genetic variants associated with complex diseases, but mechanistic insights are impeded by a lack of understanding of how specific risk variants functionally contribute to the underlying pathogenesis. It has been proposed that cis-acting effects of non-coding risk variants on gene expression are a major factor for phenotypic variation of complex...
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