PGS Catalog - PGS001761 / WA MO in tract middle cerebellar peduncle (Polygenic Score)

Polygenic Score (PGS) ID: PGS001761

Predicted Trait
Reported Trait	WA MO in tract middle cerebellar peduncle
Mapped Trait(s)	neuroimaging measurement (EFO_0004346) brain volume measurement (EFO_0006930)
Additional Trait Information	https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI25558

Released in PGS Catalog: Nov. 25, 2021

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Score Details

Score Construction
PGS Name	GBE_INI25558
Development Method
Name	snpnet
Parameters	NR
Variants
Original Genome Build	GRCh37
Number of Variants	47
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% 21,081 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
—	21,081 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
PPM006125	PSS005961\| African Ancestry\| 182 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA MO in tract middle cerebellar peduncle	—	—	R²: 0.0857 [0.07269, 0.09871] Incremental R2 (full-covars): 0.00067 PGS R2 (no covariates): 0.00032 [-0.00055, 0.0012]	age, sex, UKB array type, Genotype PCs	—
PPM006126	PSS005962\| East Asian Ancestry\| 106 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA MO in tract middle cerebellar peduncle	—	—	R²: 0.21022 [0.1759, 0.24454] Incremental R2 (full-covars): -0.00139 PGS R2 (no covariates): 0.00453 [-0.00182, 0.01088]	age, sex, UKB array type, Genotype PCs	—
PPM006127	PSS005963\| European Ancestry\| 1,651 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA MO in tract middle cerebellar peduncle	—	—	R²: 0.02568 [0.0218, 0.02955] Incremental R2 (full-covars): 2e-05 PGS R2 (no covariates): 0.0001 [-0.00015, 0.00034]	age, sex, UKB array type, Genotype PCs	—
PPM006128	PSS005964\| South Asian Ancestry\| 299 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA MO in tract middle cerebellar peduncle	—	—	R²: 0.09846 [0.08594, 0.11099] Incremental R2 (full-covars): 0.00036 PGS R2 (no covariates): 0.0 [0.0, 0.0]	age, sex, UKB array type, Genotype PCs	—
PPM006129	PSS005965\| European Ancestry\| 5,120 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA MO in tract middle cerebellar peduncle	—	—	R²: 0.03272 [0.03008, 0.03537] Incremental R2 (full-covars): 0.00316 PGS R2 (no covariates): 0.00427 [0.00328, 0.00525]	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
PSS005961	—	—	182 individuals	—	African unspecified	—	UKB	—
PSS005962	—	—	106 individuals	—	East Asian	—	UKB	—
PSS005963	—	—	1,651 individuals	—	European	non-white British ancestry	UKB	—
PSS005964	—	—	299 individuals	—	South Asian	—	UKB	—
PSS005965	—	—	5,120 individuals	—	European	white British ancestry	UKB	Testing cohort (heldout set)