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Pseudobulk

Definition
AI-generated

Pseudobulk aggregation sums or averages single-cell RNA-seq counts (or normalized expression) per donor and cell type (or cluster), producing profiles that resemble bulk RNA-seq but preserve cell-type specificity.

Topics
Single-cell analysis
Related
Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq) Single-Cell Expression Quantitative Trait Locus (sc-eQTL)

Why it matters in GWAS

Large cohort sc-eQTL studies frequently test genetics on pseudobulk matrices to gain power and reuse bulk-style eQTL pipelines, then interpret results in light of single-cell resolution and covariates.

Example usage

"We built pseudobulk counts per individual × CD4 subset and mapped cis eQTLs with a linear mixed model."

Expression Quantitative Trait Locus (eQTL) RNA Sequencing (RNA-seq) Single-Cell Expression Quantitative Trait Locus (sc-eQTL) Single-Cell Sequencing
Related-term network

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References

  • Cuomo ASE, Nathan A, Raychaudhuri S, et al. (2023). Single-cell genomics meets human genetics. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00599-5
  • Yazar S, et al. (2022). Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease. Science.
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