Absolute risk
absolute_riskEstimate absolute disease risk by combining a polygenic risk score z-score with population prevalence and effect-size data.
Instructions
Estimate absolute disease risk from a PRS z-score and population prevalence.
Joins the score's trait to prevalence + effect-size data. z_score is
the PRS in standard deviations from the population mean. Raises if the
required prevalence / effect-size data is unavailable for this score.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| pgs_id | Yes | ||
| z_score | Yes | ||
| sex | No |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| absolute_risk | Yes | Estimated absolute risk (e.g. 0.18 = 18% lifetime risk) | |
| population_prevalence | Yes | Population baseline prevalence (e.g. 0.11 = 11%) | |
| risk_ratio | Yes | Risk ratio vs population average (e.g. 1.64x) | |
| method | Yes | Estimation method: 'or_per_sd' or 'auc_bivariate' | |
| confidence | Yes | Data quality confidence: 'high', 'moderate', or 'low' | |
| prevalence_source | Yes | Where the prevalence data came from | |
| prevalence_type | Yes | Type of prevalence: 'lifetime', 'point', or 'cohort' | |
| effect_size_citation | No | Paper citation for the OR/AUROC used (e.g. 'Smith et al. 2023, JAMA (PMID: 12345678)') | |
| caveats | No | Warnings about estimation quality (e.g. 'cohort prevalence used, not population') |