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The single-cell eQTLGen consortium

Abstract

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease-associated genetic risk factors through so-called expression quantitative trait locus (eQTL) analysis. Single-cell RNA-sequencing creates enormous opportunities for mapping eQTLs across different cell types and in dynamic processes, many of which are obscured when using bulk methods. Rapid increase in throughput and reduction in cost per cell now allow this technology to be applied to large-scale population genetics studies. To fully leverage these emerging data resources, we have founded the single-cell eQTLGen consortium (sc-eQTLGen), aimed at pinpointing the cellular contexts in which disease-causing genetic variants affect gene expression. Here, we outline the goals, approach and potential utility of the sc-eQTLGen consortium. We also provide a set of study design considerations for future single-cell eQTL studies.

Type Journal
ISBN 2050-084X (Electronic) 2050-084X (Linking)
Authors van der Wijst, M.; de Vries, D. H.; Groot, H. E.; Trynka, G.; Hon, C. C.; Bonder, M. J.; Stegle, O.; Nawijn, M. C.; Idaghdour, Y.; van der Harst, P.; Ye, C. J.; Powell, J.; Theis, F. J.; Mahfouz, A.; Heinig, M.; Franke, L.
Responsible Garvan Author A/Prof Joseph Powell
Publisher Name eLife
Published Date 2021-03-31
Published Volume 9
Published Pages e52155
Status Published in-print
DOI 10.7554/eLife.52155
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/32149610