| Predicted Trait | |
| Reported Trait | Respiratory and ear-nose-throat diseases |
| Mapped Trait(s) | respiratory system disease (EFO_0000684) |
| Score Construction | |
| PGS Name | disease_RESPIRATORY_ENT.PolyFun-pred |
| Development Method | |
| Name | PolyFun-pred |
| Parameters | NR |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 207,930 |
| Effect Weight Type | beta |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000332 |
| Citation (link to publication) | Weissbrod O et al. Nat Genet (2022) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 337,488 individuals (100%) |
| PGS Evaluation | African: 25% East Asian: 25% European: 25% South Asian: 25% 4 Sample Sets |
Study Identifiers
|
Sample Numbers
|
Sample Ancestry
|
Cohort(s)
|
|---|---|---|---|
| — | 337,488 individuals | European | UKB |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM014380 | PSS009831| African Ancestry| 6,503 individuals | PGP000332 | Weissbrod O et al. Nat Genet (2022) | Reported Trait: Respiratory and ear-nose-throat diseases | — | — | Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0056 | age, sex, age*sex, assessment center, genotyping array, 10 PCs | See disease_RESPIRATORY_ENT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_re... sults for combination weightsShow more |
| PPM014429 | PSS009832| East Asian Ancestry| 922 individuals | PGP000332 | Weissbrod O et al. Nat Genet (2022) | Reported Trait: Respiratory and ear-nose-throat diseases | — | — | Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0 | age, sex, age*sex, assessment center, genotyping array, 10 PCs | See disease_RESPIRATORY_ENT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_re... sults for combination weightsShow more |
| PPM014478 | PSS009833| European Ancestry| 43,505 individuals | PGP000332 | Weissbrod O et al. Nat Genet (2022) | Reported Trait: Respiratory and ear-nose-throat diseases | — | — | Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0217 | age, sex, age*sex, assessment center, genotyping array, 10 PCs | See disease_RESPIRATORY_ENT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_re... sults for combination weightsShow more |
| PPM014527 | PSS009834| South Asian Ancestry| 8,098 individuals | PGP000332 | Weissbrod O et al. Nat Genet (2022) | Reported Trait: Respiratory and ear-nose-throat diseases | — | — | Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0103 | age, sex, age*sex, assessment center, genotyping array, 10 PCs | See disease_RESPIRATORY_ENT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_re... sults for combination weightsShow more |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS009831 | — | — | 6,503 individuals | — | African unspecified | — | UKB | — |
| PSS009832 | — | — | 922 individuals | — | East Asian | — | UKB | — |
| PSS009833 | — | — | 43,505 individuals | — | European | Non-British European | UKB | — |
| PSS009834 | — | — | 8,098 individuals | — | South Asian | — | UKB | — |