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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Bibliographic Details
Main Authors: Marco Garieri, Olivier Delaneau, Federico Santoni, Richard J. Fish, David Mull, Piero Carninci, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis, Alexandre Fort
Format: Article
Language:English
Published: Nature Publishing Group 2017-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-017-01467-7