The single-cell eQTLGen consortium
eLife, vol. 9
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.
Authors 16
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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Wellcome Sanger Institute · Open Targets
Affiliation as printed
Open Targets, Hinxton, United Kingdom
Wellcome Sanger Institute, Hinxton, United Kingdom
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RIKEN Center for Integrative Medical Sciences
Affiliation as printed
RIKEN Center for Integrative Medical Sciences, Yokahama, Japan
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German Cancer Research Center · European Molecular Biology Laboratory
Affiliation as printed
Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany
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German Cancer Research Center · European Molecular Biology Laboratory
Affiliation as printed
Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany
Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Pathology and Medical Biology, GRIAC Research Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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Affiliation as printed
Program in Biology, Public Health Research Center, New York University Abu Dhabi, Abu Dhabi, United Arab Emirates
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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University of California, San Francisco · Chan Zuckerberg Biohub San Francisco
Affiliation as printed
Institute for Human Genetics, Bakar Computational Health Sciences Institute, Bakar ImmunoX Initiative, Department of Medicine, Department of Bioengineering and Therapeutic Sciences, Department of Epidemiology and Biostatistics, Chan Zuckerberg Biohub, University of California San Francisco, San Francisco, United States
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Affiliation as printed
Garvan-Weizmann Centre for Cellular Genomics, Garvan Institute, UNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney, Australia
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Helmholtz Munich · Institute of Computational Biology · Technical University of Munich
Affiliation as printed
Department of Mathematics, Technical University of Munich, Garching bei München, Germany
Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany
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Leiden University Medical Center · Delft University of Technology
Affiliation as printed
Delft Bioinformatics Lab, Delft University of Technology, Delft, Netherlands
Leiden Computational Biology Center, Leiden University Medical Center, Leiden, Netherlands
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Helmholtz Munich · Institute of Computational Biology · Technical University of Munich
Affiliation as printed
Department of Informatics, Technical University of Munich, Garching bei München, Germany
Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany
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University Medical Center Groningen · University of Groningen
Affiliation as printed
Department of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
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