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Absolute Risk

Definition
AI-generated

Absolute risk is the probability that an individual who is disease-free at baseline will develop the outcome over a defined follow-up period, often expressed as a percentage.

Topics

Why it matters in GWAS

Polygenic scores are often evaluated first for association and discrimination, but clinical and public-health interpretation requires calibration to absolute risk in the target population, accounting for prevalence, age, sex, and other risk factors.

Example usage

"We combined the breast cancer PRS with the Tyrer–Cuzick model to report 10-year absolute risk by PRS decile."

References

  • Kachuri L, Chatterjee N, Hirbo J, et al. (2024). Principles and methods for transferring polygenic risk scores across global populations. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00637-2
  • Chatterjee N, Shi J, García-Closas M. (2016). Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet.

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