Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
Tewhey R, Kotliar D, Park DS, Liu B, Winnicki S, Reilly SK, Andersen KG, Mikkelsen TS, Lander ES, Schaffner SF, Sabeti PC. Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay. Cell 2016, 165: 1519-1529. PMID: 27259153, PMCID: PMC4957403, DOI: 10.1016/j.cell.2016.04.027.Peer-Reviewed Original ResearchConceptsNon-coding variantsCausal allelesCis-expression quantitative trait lociReporter assaysHundreds of lociQuantitative trait lociParallel reporter assaysNon-coding polymorphismsTrait lociControl regionGene expressionRegulatory functionsDifferential expressionHuman traitsHuman biologyAlters expressionAllelesLociProstaglandin EP4 receptorTraitsExpressionRisk allelesVariantsDirect identificationDirect evidence