Evidence map›Paper›PMID 32149610›Full record

ArticleeLife2020

The single-cell eQTLGen consortium.

Mgp van der Wijst, D H de Vries, H E Groot, G Trynka, C C Hon, M J Bonder, O Stegle, M C Nawijn, Y Idaghdour, P van der Harst and 6 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
143citing papers in PubMed, 5 pooled it
15.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

143 citing papers in PubMed, 5 syntheses or guidelines pooled it, 238 citations in OpenAlex.

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  15. Federated single-cell QTL meta-analysis reveals novel disease mechanisms.bioRxiv : the preprint server for biology · 2026
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83 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 9 institutions in 7 countries.

Mgp van der Wijst *Department of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0003-1520-3970
D H de Vries *Department of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
H E GrootDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0002-8265-3085
G TrynkaWellcome Sanger Institute, Hinxton, United Kingdom.ORCID 0000-0002-6955-9529
C C HonRIKEN Center for Integrative Medical Sciences, Yokahama, Japan.
M J BonderDivision of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-8431-3180
O StegleDivision of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
M C NawijnDepartment of Pathology and Medical Biology, GRIAC Research Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0003-3372-6521
Y IdaghdourProgram in Biology, Public Health Research Center, New York University Abu Dhabi, Abu Dhabi, United Arab Emirates.ORCID 0000-0002-2768-9376
P van der HarstDepartment of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0002-2713-686X
C J YeInstitute 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.
J PowellGarvan-Weizmann Centre for Cellular Genomics, Garvan Institute, UNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney, Australia.
F J TheisInstitute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany.ORCID 0000-0002-2419-1943
A MahfouzLeiden Computational Biology Center, Leiden University Medical Center, Leiden, Netherlands.ORCID 0000-0001-8601-2149
M HeinigInstitute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany.ORCID 0000-0002-5612-1720
L FrankeDepartment of Genetics, Oncode Institute, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.ORCID 0000-0002-5159-8802
University Medical Center Groningen · NLGerman Cancer Research Center · DEHelmholtz Zentrum München · DELeiden University Medical Center · NLNew York University Abu Dhabi · AERIKEN Center for Integrative Medical Sciences · JPUniversity of California, San Francisco · USUNSW Sydney · AUWellcome Sanger Institute · GB

Funding

European Research Council 637640National Health and Medical Research Council 1175781Nederlandse Organisatie voor Wetenschappelijk Onderzoek NWO-Veni 192.029Nederlandse Organisatie voor Wetenschappelijk Onderzoek ZonMW-VIDI 917.14.374
6 · The paper itself

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.

Indexed as

Gene ExpressionGenetic Predisposition to DiseaseGenetics, PopulationQuantitative Trait LociSingle-Cell AnalysisGene Regulatory NetworksGenotypeHumansPolymorphism, Single NucleotideRNA-SeqSequence Analysis, RNAeQTLgene regulatory networkgeneticsgenomicshumanPBMCscience forumsingle-cell

Identifiers

PMID32149610
PMCPMC7077978
OpenAlexW3010054644

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.