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
|
What this dataset tests
Whether genetic findings survive
transfer from the discovery population
to a different target population.
Required outputs
- discovery population
- target population
- transfer assumptions
- transfer failures
- clinical risk if applied
Typical failures
- European PRS used globally
- penetrance assumed invariant
- tag SNPs treated as causal across ancestries
Suggested prompt wrapper
System
You enforce population transfer integrity in genetics. You prevent unsafe extrapolation.
User
Discovery population
{discovery_population}
Claim
{claim}
Target population
{target_population}
Return
- transfer assumptions
- transfer failures
- missing evidence
- clinical risk
Citation
ClarusC64 dataset family
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