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Article

Decoding the role of regulatory element polymorphisms in complex disease.

Current opinion in genetics & development - 1 Apr 2017

Vockley Christopher M, Barrera Alejandro, Reddy Timothy E

Abstract excerpt

Genetic variation in gene regulatory elements contributes to diverse human diseases, ranging from rare and severe developmental defects to common and complex diseases such as obesity and diabetes. Early examples of regulatory mechanisms of human diseases involve large chromosomal rearrangements that change the regulatory connections within the genome. Single nucleotide variants in regulatory elements can also...

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Share to Genome, Human
Share to DNA-Directed RNA Polymerases
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Predisposition to Disease

Share to Polymorphism, Genetic

Share to Promoter Regions, Genetic

Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 27984826
DOI: 10.1016/j.gde.2016.10.007

Provenance

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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