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Polygenic Score

Meaning

A Polygenic Score (PGS), also known as a Polygenic Risk Score (PRS), is a quantitative genetic measure that summarizes the estimated cumulative effect of numerous common genetic variants on an individual’s predisposition to a complex trait or chronic disease. Unlike single-gene testing, which identifies rare, high-impact mutations, the PGS aggregates the small, additive contributions of thousands of single-nucleotide polymorphisms (SNPs) across the entire genome. This score provides a probabilistic estimate of an individual’s genetic liability for conditions like type 2 diabetes, cardiovascular disease, or certain cancers.