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Chunk #3 — Properties of polygenic risk scores

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Polygenic risk scores: from research tools to clinical instruments.
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The PRS is formed from a set of independent risk variants associated with a disorder, based on the current evidence from the largest or most informative genome-wide association studies. For each individual, the number of risk alleles carried at each variant (0, 1, or 2) is summed, weighted by its effect size (i.e. log (OR) for binary traits or beta coefficient for continuous traits). The outcome is a single score of each individual’s genetic loading for a disease or for a continuous trait (Fig. 1).