id stringclasses 8 values | genetic_context stringclasses 8 values | discovery_population stringclasses 8 values | evidence_pack stringclasses 8 values | claim stringclasses 8 values | target_population stringclasses 8 values | transfer_assumptions stringclasses 8 values | transfer_failures stringclasses 8 values | missing_transfer_evidence stringclasses 8 values | clinical_risk_if_applied stringclasses 8 values | notes stringclasses 8 values | constraints stringclasses 1 value | gold_checklist stringclasses 1 value |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |
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