eQTL studies: from bulk tissues to single cells  

作　　者：Jingfei Zhang Hongyu Zhao 

机构地区：[1]Information Systems and Operations Management,Emory University,Atlanta,GA 30322,USA [2]Department of Biostatistics,Yale School of Public Health,New Haven,CT 208034,USA

出　　处：《Journal of Genetics and Genomics》2023年第12期925-933,共9页遗传学报（英文版）

摘　　要：An expression quantitative trait locus (eQTL) is a chromosomal region where genetic variants are associated with the expression levels of specific genes that can be both nearby or distant. The identifications of eQTLs for different tissues, cell types, and contexts have led to a better understanding of the dynamic regulations of gene expressions and implications of functional genes and variants for complex traits and diseases. Although most eQTL studies have been performed on data collected from bulk tissues, recent studies have demonstrated the importance of cell-type-specific and context-dependent gene regulations in biological processes and disease mechanisms. In this review, we discuss statistical methods that have been developed to enable the detection of cell-type-specific and context-dependent eQTLs from bulk tissues, purified cell types, and single cells. We also discuss the limitations of the current methods and future research opportunities.

关 键 词：EQTL Bulk samples Single cell TISSUES Cell-type-specific Context-dependent 

分 类 号：Q434[生物学—生理学]