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van der Wijst, Monique G P; Brugge, Harm; de Vries, Dylan H; Deelen, Patrick; Swertz, Morris A; Franke, Lude
Nature genetics, 04/2018, Letnik: 50, Številka: 4Journal Article
Genome-wide association studies have identified thousands of genetic variants that are associated with disease . Most of these variants have small effect sizes, but their downstream expression effects, so-called expression quantitative trait loci (eQTLs), are often large and celltype-specific . To identify these celltype-specific eQTLs using an unbiased approach, we used single-cell RNA sequencing to generate expression profiles of ~25,000 peripheral blood mononuclear cells from 45 donors. We identified previously reported cis-eQTLs, but also identified new celltype-specific cis-eQTLs. Finally, we generated personalized co-expression networks and identified genetic variants that significantly alter co-expression relationships (which we termed 'co-expression QTLs'). Single-cell eQTL analysis thus allows for the identification of genetic variants that impact regulatory networks.
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