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Biomarker

Definition
AI-generated

A biomarker is a measurable characteristic (molecular, imaging, physiologic, or behavioral) that indicates a normal or pathologic process, or a response to intervention.

Why it matters in GWAS

GWAS and QTL studies nominate candidate biomarkers (e.g. variants linked to protein levels or disease risk); moving from association to clinical use requires replication, calibration across ancestries, and often orthogonal evidence (e.g. Mendelian randomization, functional assays).

Example usage

"The lead SNP was proposed as a biomarker for trial stratification after cross-cohort replication."

References

  • Strimbu K, Tavel JA. (2010). What are biomarkers? Curr Opin HIV AIDS.

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