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Transcriptome Analysis of Single Cells
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eQTL Studies: from Bulk Tissues to Single Cells.

Jingfei Zhang1, Hongyu Zhao2

  • 1Information Systems and Operations Management, Emory University.

Arxiv
|March 3, 2023
PubMed
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This review covers methods for finding cell-type-specific expression quantitative trait loci (eQTLs) in bulk tissues, purified cells, and single cells. Understanding these eQTLs is key to deciphering gene regulation in complex diseases.

Area of Science:

  • Genomics
  • Molecular Biology
  • Systems Biology

Background:

  • Expression quantitative trait loci (eQTLs) link genetic variants to gene expression levels, aiding understanding of complex traits and diseases.
  • Most eQTL studies use bulk tissues, but cell-type-specific and context-dependent regulations are crucial for biological processes and disease mechanisms.

Approach:

  • This review discusses statistical methods for detecting cell-type-specific and context-dependent eQTLs.
  • Methods cover analyses of bulk tissues, purified cell types, and single-cell data.

Key Points:

  • Advances in statistical methods enable the identification of cell-type-specific eQTLs from diverse data types.
  • Understanding cell-type-specific gene regulation is vital for dissecting disease mechanisms.

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  • Current methods have limitations that present opportunities for future research.

    • Conclusions:

    • The development of sophisticated statistical approaches is advancing the field of eQTL analysis.
    • Future research should focus on refining methods and addressing current limitations for more precise eQTL detection.