Expression quantitative trait locus studies in the era of single-cell omics

Frontiers in Genetics

Genetics

Xinyi Wu¹  Yuan Cheng¹  Jie Luo²  Guang Chen²  Jian Wang²  Xijiao Song² 

[1] Institute of Vegetables, Zhejiang Academy of Agricultural Sciences, Hangzhou, China;State Key Laboratory for Managing Biotic and Chemical Threats to The Quality and Safety of Agro‐products, Zhejiang Academy of Agricultural Sciences, Hangzhou, China;

关键词: sc-eQTL;    cell-type-specific;    genetic variants;    scRNA-seq;    bulk RNA-seq;   

DOI  :  10.3389/fgene.2023.1182579

 received in 2023-03-10, accepted in 2023-04-26,  发布年份 2023

来源: Frontiers

【 摘 要 】

Genome-wide association studies have revealed that the regulation of gene expression bridges genetic variants and complex phenotypes. Profiling of the bulk transcriptome coupled with linkage analysis (expression quantitative trait locus (eQTL) mapping) has advanced our understanding of the relationship between genetic variants and gene regulation in the context of complex phenotypes. However, bulk transcriptomics has inherited limitations as the regulation of gene expression tends to be cell-type-specific. The advent of single-cell RNA-seq technology now enables the identification of the cell-type-specific regulation of gene expression through a single-cell eQTL (sc-eQTL). In this review, we first provide an overview of sc-eQTL studies, including data processing and the mapping procedure of the sc-eQTL. We then discuss the benefits and limitations of sc-eQTL analyses. Finally, we present an overview of the current and future applications of sc-eQTL discoveries.

【 授权许可】

Unknown   
Copyright © 2023 Luo, Wu, Cheng, Chen, Wang and Song.