Article
Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay.
Cell - 2 Jun 2016
Tewhey Ryan, Kotliar Dylan, Park Daniel S, Liu Brandon, Winnicki Sarah, Reilly Steven K, Andersen Kristian G, Mikkelsen Tarjei S, Lander Eric S, Schaffner Stephen F, Sabeti Pardis C
Abstract excerpt
Although studies have identified hundreds of loci associated with human traits and diseases, pinpointing causal alleles remains difficult, particularly for non-coding variants. To address this challenge, we adapted the massively parallel reporter assay (MPRA) to identify variants that directly modulate gene expression. We applied it to 32,373 variants from 3,642 cis-expression quantitative trait loci and control...
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