| id,genetic_context,discovery_population,evidence_pack,claim,target_population,transfer_assumptions,transfer_failures,missing_transfer_evidence,clinical_risk_if_applied,notes,constraints,gold_checklist | |
| GPTI-001,PRS,"European ancestry adults","PRS AUC 0.64 in UK Biobank. No non-European validation.","Accurate risk prediction.","Global populations","LD structure and effect sizes assumed stable.","PRS performance collapses outside European ancestry.","No multi-ancestry validation; no recalibration.","misclassification; inequitable care","Classic PRS transfer failure","Under 220 words.","assumptions+failures+risk" | |
| GPTI-002,rare_variant,"Northern European families","Segregation in 3 families. Penetrance ~80%.","High penetrance pathogenic variant.","East Asian populations","Penetrance assumed invariant across ancestry.","Background modifiers differ; penetrance likely lower.","No ancestry-stratified penetrance data.","overdiagnosis; anxiety; unnecessary intervention","Penetrance transfer error","Under 220 words.","assumptions+failures+risk" | |
| GPTI-003,pharmacogenomics,"European trial cohort","CYP variant linked to toxicity.","Dose adjustment required universally.","African ancestry patients","Allele frequency and haplotype assumed similar.","Variant rare; different functional alleles dominate.","No African pharmacogenomic data.","undertreatment or toxicity","Allele frequency ignorance","Under 220 words.","assumptions+failures+risk" | |
| GPTI-004,GWAS,"European cohort","Index SNP associated; fine-mapping unresolved.","Causal variant identified.","Latino populations","Tag SNP assumed causal across ancestries.","LD differs; tag breaks.","No trans-ethnic fine-mapping.","false causality; wrong mechanism","LD transfer failure","Under 220 words.","assumptions+failures+risk" | |
| GPTI-005,cancer_risk,"Ashkenazi Jewish cohort","Founder mutation high risk.","Same risk estimate applied.","General population","Founder effect ignored.","Risk vastly lower outside founder group.","No population prevalence adjustment.","overtesting; harm","Founder mutation misuse","Under 220 words.","assumptions+failures+risk" | |
| GPTI-006,monogenic_score,"European neonates","Score predicts disease onset.","Used for universal screening.","African neonates","Score transport assumed.","Different variant spectrum.","No ancestry-specific calibration.","missed cases; false reassurance","Screening inequity","Under 220 words.","assumptions+failures+risk" | |
| GPTI-007,polygenic_trait,"European adults","BMI PRS validated.","Predicts obesity risk.","South Asian populations","Environmental interaction ignored.","Gene–environment differs.","No interaction modeling.","misleading prevention advice","Context collapse","Under 220 words.","assumptions+failures+risk" | |
| GPTI-008,carrier_screen,"European carrier data","Carrier frequency established.","Applied universally.","Middle Eastern populations","Carrier rates assumed similar.","Different pathogenic variants.","No regional panels.","missed carrier couples","Reproductive risk error","Under 220 words.","assumptions+failures+risk" | |