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Article

Rare and common regulatory variation in population-scale sequenced human genomes.

PLoS genetics - 1 Jul 2011

Montgomery Stephen B, Lappalainen Tuuli, Gutierrez-Arcelus Maria, Dermitzakis Emmanouil T

Abstract excerpt

Population-scale genome sequencing allows the characterization of functional effects of a broad spectrum of genetic variants underlying human phenotypic variation. Here, we investigate the influence of rare and common genetic variants on gene expression patterns, using variants identified from sequencing data from the 1000 genomes project in an African and European population sample and gene expression data from...

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Identifiers

PMID: 21811411
DOI: 10.1371/journal.pgen.1002144
PMCID: PMC3141000

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

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