Single-cell eQTLGen Consortium: a personalized understanding of disease

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. The enormous increase in throughput and reduction in cost per cell now allow this technology to be applied to large-scale population genetics studies. Therefore, we have founded the single-cell eQTLGen consortium (sc-eQTLGen), aimed at pinpointing disease-causing genetic variants and identifying the cellular contexts in which they affect gene expression. Ultimately, this information can enable development of personalized medicine. Here, we outline the goals, approach, potential utility and early proofs-of-concept of the sc-eQTLGen consortium. We also provide a set of study design considerations for future single-cell eQTL studies.

Monique G.P. van der Wijst, Dylan H. de Vries, Hilde E. Groot, Gosia Trynka, Chung-Chau Hon, et al. Single-cell eQTLGen Consortium: a personalized understanding of disease. arXiv, 2019.
@article { bib:2019_sceQTL_preprint,
author = { Monique G.P. van der Wijst and Dylan H. de Vries and Hilde E. Groot and Gosia Trynka and Chung-Chau Hon and Martijn C. Nawijn and Youssef Idaghdour and Pim van der Harst and Chun J. Ye and Joseph Powell and Fabian J. Theis and Ahmed Mahfouz and Matthias Heinig and Lude Franke },
title = { Single-cell eQTLGen Consortium: a personalized understanding of disease },
year = { 2019 },
Single cell eQTL consortium screenshot