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Article

The effect of genetic variation on promoter usage and enhancer activity.

Nature communications - 7 Nov 2017

Garieri Marco, Delaneau Olivier, Santoni Federico, Fish Richard J, Mull David, Carninci Piero, Dermitzakis Emmanouil T, Antonarakis Stylianos E, Fort Alexandre

Abstract excerpt

The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding regulatory regions of the genome and their identification remains challenging. Here, we use natural genetic variation and CAGE transcriptomes from 154...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29116076
DOI: 10.1038/s41467-017-01467-7
PMCID: PMC5677018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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