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Transcriptomics

Definition
AI-generated

Transcriptomics is the large-scale measurement and analysis of RNA abundance, splicing, and (in single cells) cell-type-resolved expression programs, usually relative to a reference annotation or assembled transcriptome.

Why it matters in GWAS

Transcriptomic layers are the main bridge from SNP associations to gene-level mechanisms via eQTL catalogs, colocalization, TWAS, and dynamic or cell-type-specific extensions such as sc-eQTL.

Example usage

"Integration combined GWAS summary statistics with bulk liver transcriptomics from the same ancestry panel."

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

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