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Article

Systematic functional regulatory assessment of disease-associated variants.

Proceedings of the National Academy of Sciences of the United States of America - 4 Jun 2013

Karczewski Konrad J, Dudley Joel T, Kukurba Kimberly R, Chen Rong, Butte Atul J, Montgomery Stephen B, Snyder Michael

Abstract excerpt

Genome-wide association studies have discovered many genetic loci associated with disease traits, but the functional molecular basis of these associations is often unresolved. Genome-wide regulatory and gene expression profiles measured across individuals and diseases reflect downstream effects of genetic variation and may allow for functional assessment of disease-associated loci. Here, we present a unique...

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Identifiers

PMID: 23690573
DOI: 10.1073/pnas.1219099110
PMCID: PMC3677437

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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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