Format

Send to

Choose Destination
Nat Genet. 2018 Apr;50(4):493-497. doi: 10.1038/s41588-018-0089-9. Epub 2018 Apr 2.

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.

Author information

1
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
2
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. lude@ludesign.nl.

Abstract

Genome-wide association studies have identified thousands of genetic variants that are associated with disease 1 . Most of these variants have small effect sizes, but their downstream expression effects, so-called expression quantitative trait loci (eQTLs), are often large 2 and celltype-specific3-5. 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.

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center