The single-cell eQTLGen consortium

Autor: Youssef Idaghdour, Fabian J. Theis, Ahmed Mahfouz, Monique G. P. van der Wijst, Matthias Heinig, Oliver Stegle, DH de Vries, CC Hon, Gosia Trynka, Joseph E. Powell, Lude Franke, Marc Jan Bonder, P. van der Harst, Hilde E. Groot, Martijn C. Nawijn, Chun Jimmie Ye
Přispěvatelé: Groningen Research Institute for Asthma and COPD (GRIAC), Cardiovascular Centre (CVC), Macromolecular Chemistry & New Polymeric Materials, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)
Rok vydání: 2020
Předmět:
0301 basic medicine
PREDICTION
Computer science
DIVERSITY
Gene regulatory network
Gene Expression
Population genetics
gene regulatory network
0302 clinical medicine
DRIVERS
genetics
RNA-Seq
Biology (General)
Genetic risk
ASSOCIATIONS
RISK
General Neuroscience
General Medicine
Medicine
Single-Cell Analysis
Functional genomics
EXPRESSION
Genotype
QH301-705.5
Science
Quantitative Trait Loci
Genomics
Computational biology
GENE REGULATORY NETWORKS
eQTL
Polymorphism
Single Nucleotide

General Biochemistry
Genetics and Molecular Biology

03 medical and health sciences
genomics
Humans
Leverage (statistics)
Genetic Predisposition to Disease
human
IDENTIFICATION
General Immunology and Microbiology
Sequence Analysis
RNA

Feature Article
Eqtl
Gene Regulatory Network
Genetics
Human
Pbmc
Science Forum
Single-cell
PBMC
Genetics and Genomics
single-cell
science forum
Data resources
Genetics
Population

030104 developmental biology
Expression quantitative trait loci
030217 neurology & neurosurgery
Zdroj: eLife
eLife 9:e52155 (2020)
eLife, 9:52155. ELIFE SCIENCES PUBLICATIONS LTD
eLife, Vol 9 (2020)
eLife, 9
ISSN: 2050-084X
Popis: 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.
Databáze: OpenAIRE