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genetic_context
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discovery_population
stringclasses
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evidence_pack
stringclasses
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claim
stringclasses
8 values
target_population
stringclasses
8 values
transfer_assumptions
stringclasses
8 values
transfer_failures
stringclasses
8 values
missing_transfer_evidence
stringclasses
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clinical_risk_if_applied
stringclasses
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notes
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constraints
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gold_checklist
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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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