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Metabolome

Definition
AI-generated

The metabolome is the complete set of small-molecule metabolites present in a biosample (e.g. plasma, urine), as profiled by mass spectrometry or NMR. It reflects downstream biochemistry of genotype, diet, microbiome, and environment.

Why it matters in GWAS

Metabolite GWAS (mGWAS) links genetic variants to biochemical traits, aiding pathway interpretation of disease associations and biomarker discovery.

Example usage

"A replication step checks whether Metabolome assumptions remain stable across cohorts."

References

  • Kettunen J, et al. (2016). Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. Nat Commun.

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