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Proteomics

Definition
AI-generated

Proteomics is the large-scale study of protein abundance, interactions, and post-translational modification, typically using mass spectrometry or multiplexed affinity platforms on biofluids or tissues.

Why it matters in GWAS

Proteomic datasets enable pQTL discovery and Mendelian-randomization–style bridges from variants to circulating proteins, complementing eQTL-based interpretation when RNA is unavailable or uncoupled from protein.

Example usage

"Olink proteomics in UK Biobank was used to map thousands of protein QTLs for downstream MR."

References

  • Ferkingstad E, et al. (2021). Large-scale integration of the plasma proteome with genetics and disease. Nat Genet.

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