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Differential expression analysis

Definition
AI-generated

Differential expression analysis statistically compares gene expression (or transcript counts) between conditions or groups—case/control, treatment, genotype classes, or cell types—while modeling variability, library size, and confounders, classically yielding per-gene effect sizes and significance.

Why it matters in GWAS

DE results contextualize loci in relevant phenotypes and tissues, prioritize candidate pathways, and complement eQTL evidence when the same variants or pathways are tested in orthogonal expression cohorts.

Example usage

"We performed differential expression analysis comparing carriers and non-carriers of the risk allele in iPSC-derived neurons."

References

  • Love MI, Huber W, Anders S. (2014). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol.

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