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
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Langue:EN
Publié: Nature Portfolio 2017
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Accès en ligne:https://doaj.org/article/f898d3fe6d3f4ed39e819f0b0e5b759b
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spelling oai:doaj.org-article:f898d3fe6d3f4ed39e819f0b0e5b759b2021-12-02T14:42:39ZThe effect of genetic variation on promoter usage and enhancer activity10.1038/s41467-017-01467-72041-1723https://doaj.org/article/f898d3fe6d3f4ed39e819f0b0e5b759b2017-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-01467-7https://doaj.org/toc/2041-1723Expression 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).Marco GarieriOlivier DelaneauFederico SantoniRichard J. FishDavid MullPiero CarninciEmmanouil T. DermitzakisStylianos E. AntonarakisAlexandre FortNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-9 (2017)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Marco Garieri
Olivier Delaneau
Federico Santoni
Richard J. Fish
David Mull
Piero Carninci
Emmanouil T. Dermitzakis
Stylianos E. Antonarakis
Alexandre Fort
The effect of genetic variation on promoter usage and enhancer activity
description 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).
format article
author Marco Garieri
Olivier Delaneau
Federico Santoni
Richard J. Fish
David Mull
Piero Carninci
Emmanouil T. Dermitzakis
Stylianos E. Antonarakis
Alexandre Fort
author_facet Marco Garieri
Olivier Delaneau
Federico Santoni
Richard J. Fish
David Mull
Piero Carninci
Emmanouil T. Dermitzakis
Stylianos E. Antonarakis
Alexandre Fort
author_sort Marco Garieri
title The effect of genetic variation on promoter usage and enhancer activity
title_short The effect of genetic variation on promoter usage and enhancer activity
title_full The effect of genetic variation on promoter usage and enhancer activity
title_fullStr The effect of genetic variation on promoter usage and enhancer activity
title_full_unstemmed The effect of genetic variation on promoter usage and enhancer activity
title_sort effect of genetic variation on promoter usage and enhancer activity
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/f898d3fe6d3f4ed39e819f0b0e5b759b
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