The effect of genetic variation on promoter usage and enhancer activity

Expression quantitative trait loci (eQTL) are widely studied, yet the mechanisms by which they exert their effects are largely unknown. Here, performing CAGE-seq on 154 lymphoblastoid cell lines, the authors map regulatory variants associated with promoter usage (puQTLs) and enhancer activity (eaQTL...

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Auteurs principaux: Marco Garieri, Olivier Delaneau, Federico Santoni, Richard J. Fish, David Mull, Piero Carninci, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Alexandre Fort
Format: article
Langue:EN
Publié: Nature Portfolio 2017
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Accès en ligne:https://doaj.org/article/f898d3fe6d3f4ed39e819f0b0e5b759b
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Résumé:Expression quantitative trait loci (eQTL) are widely studied, yet the mechanisms by which they exert their effects are largely unknown. Here, performing CAGE-seq on 154 lymphoblastoid cell lines, the authors map regulatory variants associated with promoter usage (puQTLs) and enhancer activity (eaQTLs).