id stringclasses 5
values | genotype_context stringclasses 4
values | phenotype_label stringclasses 5
values | phenotype_definition stringclasses 5
values | measurement_source stringclasses 5
values | stability_over_time stringclasses 3
values | proxy_flags stringclasses 4
values | biological_validity_assessment stringclasses 5
values | downstream_model_risk stringclasses 5
values | notes stringclasses 5
values | constraints stringclasses 1
value | gold_checklist stringclasses 1
value |
|---|---|---|---|---|---|---|---|---|---|---|---|
PDI-001 | PRS | Depression | SSRI prescription within 12 months | EHR prescription data | Low | Medication as proxy | Heterogeneous; non-specific | irreproducible associations | Classic proxy phenotype | Under 220 words. | definition+proxy+risk |
PDI-002 | rare_variant | Epilepsy | Single ICD-10 code | Administrative coding | Low | Billing proxy | Poor biological specificity | false genetic signals | ICD misuse | Under 220 words. | definition+proxy+risk |
PDI-003 | LoF gene | Hypercholesterolemia | LDL >190 mg/dL on 2 occasions | Lab measurements | High | null | Biologically grounded | stable modeling | Good phenotype | Under 220 words. | definition+proxy+risk |
PDI-004 | GWAS | Asthma | Self-reported diagnosis | Questionnaire | Medium | Self-report bias | Variable construct | noise amplification | Survey instability | Under 220 words. | definition+proxy+risk |
PDI-005 | PRS | Obesity | BMI >30 | Anthropometrics | Medium | BMI as proxy | Partial metabolic signal | context-dependent risk | BMI collapse | Under 220 words. | definition+proxy+risk |
Names when the phenotype itself is unstable.
This is where replication fails
because the trait was never coherent.
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