Polygenic Score (PGS) ID: PGS001638

Predicted Trait
Reported Trait Volume of thalamus (R)
Mapped Trait(s)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI25012
Released in PGS Catalog: Nov. 25, 2021
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PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name GBE_INI25012
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 1,792
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%
22,312 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
South Asian: 20%
5 Sample Sets

Development Samples

Score Development/Training
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
22,312 individuals European UKB white British ancestry Training + validation cohort (train_val)

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM005405 PSS005241|
African Ancestry|
200 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Vol. of thalamus (R) : 0.29788 [0.27926, 0.31651]
Incremental R2 (full-covars): -0.0213
PGS R2 (no covariates): 0.00832 [0.00392, 0.01271]
age, sex, UKB array type, Genotype PCs
PPM005406 PSS005242|
East Asian Ancestry|
113 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Vol. of thalamus (R) : 0.28598 [0.24979, 0.32216]
Incremental R2 (full-covars): 0.00325
PGS R2 (no covariates): 0.01445 [0.00322, 0.02567]
age, sex, UKB array type, Genotype PCs
PPM005407 PSS005243|
European Ancestry|
1,739 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Vol. of thalamus (R) : 0.36351 [0.35397, 0.37304]
Incremental R2 (full-covars): 0.01877
PGS R2 (no covariates): 0.02416 [0.02039, 0.02793]
age, sex, UKB array type, Genotype PCs
PPM005408 PSS005244|
South Asian Ancestry|
328 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Vol. of thalamus (R) : 0.40018 [0.38338, 0.41698]
Incremental R2 (full-covars): 0.00859
PGS R2 (no covariates): 0.00576 [0.00242, 0.0091]
age, sex, UKB array type, Genotype PCs
PPM005409 PSS005245|
European Ancestry|
5,443 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Vol. of thalamus (R) : 0.30158 [0.29579, 0.30737]
Incremental R2 (full-covars): 0.02093
PGS R2 (no covariates): 0.02391 [0.02163, 0.02619]
age, sex, UKB array type, Genotype PCs

Evaluated Samples

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
PSS005244 328 individuals South Asian UKB
PSS005245 5,443 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS005241 200 individuals African unspecified UKB
PSS005242 113 individuals East Asian UKB
PSS005243 1,739 individuals European non-white British ancestry UKB