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Article

Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy.

PLoS genetics - 1 Mar 2017

Tong Pin, Monahan Jack, Prendergast James G D

Abstract excerpt

Large-scale gene expression datasets are providing an increasing understanding of the location of cis-eQTLs in the human genome and their role in disease. However, little is currently known regarding the extent of regulatory site-sharing between genes. This is despite it having potentially wide-ranging implications, from the determination of the way in which genetic variants may shape multiple phenotypes to the...

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PMID: 28282383
DOI: 10.1371/journal.pgen.1006673
PMCID: PMC5365138

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