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

文献类型： 外文期刊

作者： Luo, Jie 1 ; Wu, Xinyi 2 ; Cheng, Yuan 2 ; Chen, Guang 1 ; Wang, Jian 1 ; Song, Xijiao 1 ;

作者机构： 1.Zhejiang Acad Agr Sci, State Key Lab Managing Biot & Chem Threats Qual &, Hangzhou, Peoples R China

2.Zhejiang Acad Agr Sci, Inst Vegetables, Hangzhou, Peoples R China

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

期刊名称：FRONTIERS IN GENETICS （ 影响因子：3.7； 五年影响因子：4.3 ）

ISSN：

年卷期： 2023 年 14 卷

页码：

收录情况： SCI

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.

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