Predicted Trait | |
Reported Trait | Alzheimer's disease (time-to-event) |
Mapped Trait(s) | Alzheimer disease (MONDO_0004975) |
Additional Trait Information | https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC807 |
Score Construction | |
PGS Name | GBE_HC807 |
Development Method | |
Name | snpnet |
Parameters | NR |
Variants | |
Original Genome Build | GRCh37 |
Number of Variants | 6 |
Effect Weight Type | NR |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000244 |
Citation (link to publication) | Tanigawa Y et al. PLoS Genet (2022) |
Ancestry Distribution | |
Score Development/Training | European: 100% 269,704 individuals (100%) |
PGS Evaluation | European: 50% African: 25% South Asian: 25% 4 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) | Phenotype Definitions & Methods | Age of Study Participants | Participant Follow-up Time | Additional Ancestry Description | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
— | [
|
European | UKB | — | — | — | white British ancestry | — |
PGS Performance Metric ID (PPM) |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|
PPM009225 | PSS004632| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE alzheimer's disease | — | AUROC: 0.96248 [0.93046, 0.9945] | R²: 0.31063 Incremental AUROC (full-covars): 0.00757 PGS R2 (no covariates): 0.03204 PGS AUROC (no covariates): 0.63583 [0.42385, 0.84781] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM009226 | PSS004634| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE alzheimer's disease | — | AUROC: 0.86841 [0.82079, 0.91602] | R²: 0.16057 Incremental AUROC (full-covars): 0.03323 PGS R2 (no covariates): 0.05188 PGS AUROC (no covariates): 0.67961 [0.58969, 0.76952] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM009227 | PSS004635| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE alzheimer's disease | — | AUROC: 0.9136 [0.8364, 0.9908] | R²: 0.24293 Incremental AUROC (full-covars): 0.00891 PGS R2 (no covariates): 0.01019 PGS AUROC (no covariates): 0.53145 [0.34417, 0.71873] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PPM009228 | PSS004636| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE alzheimer's disease | — | AUROC: 0.8666 [0.84246, 0.89075] | R²: 0.15418 Incremental AUROC (full-covars): 0.04665 PGS R2 (no covariates): 0.05271 PGS AUROC (no covariates): 0.71238 [0.66844, 0.75632] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS004636 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
PSS004632 | — | — | [
|
— | African unspecified | — | UKB | — |
PSS004634 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
PSS004635 | — | — | [
|
— | South Asian | — | UKB | — |