The single-cell eQTLGen consortium
- University of Groningen, University Medical Center Groningen, Netherlands
- Wellcome Sanger Institute, United Kingdom
- RIKEN Center for Integrative Medical Sciences, Japan
- European Molecular Biology Laboratory, European Bioinformatics Institute, United Kingdom
- DKFZ, Germany
- New York University Abu Dhabi, United Arab Emirates
- University of California, San Francisco, United States
- Garvan Institute, Australia
- Helmholtz Zentrum München, Germany
- Leiden University Medical Center, Netherlands
- Institute of Computational Biology, Helmholtz Zentrum München, Technical University of Munich, Germany
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.
Data availability
Not applicable
Article and author information
Author details
Monique GP van der Wijst
Funding
Dutch Research Council (NWO-Veni 192.029)
- Monique GP van der Wijst
Dutch Research Council (ZonMW-VIDI 917.14.374)
- Lude Franke
European Research Council (ERC Starting grant Immrisk 637640)
- Lude Franke
Oncode Institute
- Lude Franke
National Health and Medical Research Council (Investigator grant 1175781)
- Joseph Powell
The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.
Reviewing Editor
- Helena Pérez Valle, eLife, United Kingdom
Publication history
- Received: September 24, 2019
- Accepted: March 3, 2020
- Accepted Manuscript published: March 9, 2020 (version 1)
- Version of Record published: March 17, 2020 (version 2)
Copyright
© 2020, van der Wijst et al.
This article is distributed under the terms of the Creative Commons Attribution License permitting unrestricted use and redistribution provided that the original author and source are credited.
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The single-cell eQTLGen consortium
eLife 9:e52155.
https://doi.org/10.7554/eLife.52155
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