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Article

The impact of structural variation on human gene expression.

Nature genetics - 1 May 2017

Chiang Colby, Scott Alexandra J, Davis Joe R, Tsang Emily K, Li Xin, Kim Yungil, Hadzic Tarik, Damani Farhan N, Ganel Liron, Montgomery Stephen B, Battle Alexis, Conrad Donald F, Hall Ira M

Abstract excerpt

Structural variants (SVs) are an important source of human genetic diversity, but their contribution to traits, disease and gene regulation remains unclear. We mapped cis expression quantitative trait loci (eQTLs) in 13 tissues via joint analysis of SVs, single-nucleotide variants (SNVs) and short insertion/deletion (indel) variants from deep whole-genome sequencing (WGS). We estimated that SVs are causal at...

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Identifiers

PMID: 28369037
DOI: 10.1038/ng.3834
PMCID: PMC5406250

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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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