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Article

Identification of altered cis-regulatory elements in human disease.

Trends in genetics : TIG - 1 Feb 2015

Mathelier Anthony, Shi Wenqiang, Wasserman Wyeth W

Abstract excerpt

It has long been appreciated that variations in regulatory regions of genes can impact gene expression. With the advent of whole-genome sequencing (WGS), it has become possible to begin cataloging these noncoding variants. Evidence continues to accumulate linking clinical cases with cis-regulatory element disruption in a wide range of diseases. Identifying variants is becoming routine, but assessing their impact...

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PMID: 25637093
DOI: 10.1016/j.tig.2014.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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