PGS Catalog - PGS001713 / WA L1 in tract uncinate fasciculus (L) (Polygenic Score)

Polygenic Score (PGS) ID: PGS001713

Predicted Trait
Reported Trait	WA L1 in tract uncinate fasciculus (L)
Mapped Trait(s)	neuroimaging measurement (EFO_0004346) brain volume measurement (EFO_0006930)
Additional Trait Information	https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI25594

Released in PGS Catalog: Nov. 25, 2021

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Score Details

Score Construction
PGS Name	GBE_INI25594
Development Method
Name	snpnet
Parameters	NR
Variants
Original Genome Build	GRCh37
Number of Variants	173
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
PPM006200	PSS006036\| African Ancestry\| 182 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA L1 in tract uncinate fasciculus (L)	—	—	R²: 0.10999 [0.09564, 0.12433] Incremental R2 (full-covars): 0.00364 PGS R2 (no covariates): 0.00208 [-0.00013, 0.00429]	age, sex, UKB array type, Genotype PCs	—
PPM006201	PSS006037\| East Asian Ancestry\| 106 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA L1 in tract uncinate fasciculus (L)	—	—	R²: 0.1772 [0.14437, 0.21002] Incremental R2 (full-covars): 0.0013 PGS R2 (no covariates): 0.00042 [-0.00152, 0.00237]	age, sex, UKB array type, Genotype PCs	—
PPM006202	PSS006038\| European Ancestry\| 1,651 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA L1 in tract uncinate fasciculus (L)	—	—	R²: 0.12781 [0.12007, 0.13556] Incremental R2 (full-covars): 0.00468 PGS R2 (no covariates): 0.00292 [0.00158, 0.00426]	age, sex, UKB array type, Genotype PCs	—
PPM006203	PSS006039\| South Asian Ancestry\| 299 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA L1 in tract uncinate fasciculus (L)	—	—	R²: 0.16441 [0.14941, 0.17941] Incremental R2 (full-covars): 0.00538 PGS R2 (no covariates): 0.01217 [0.00734, 0.01699]	age, sex, UKB array type, Genotype PCs	—
PPM006204	PSS006040\| European Ancestry\| 5,120 individuals	PGP000244 \| Tanigawa Y et al. PLoS Genet (2022)	Reported Trait: WA L1 in tract uncinate fasciculus (L)	—	—	R²: 0.08773 [0.08365, 0.09181] Incremental R2 (full-covars): 0.00616 PGS R2 (no covariates): 0.00682 [0.00558, 0.00805]	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
PSS006036	—	—	182 individuals	—	African unspecified	—	UKB	—
PSS006037	—	—	106 individuals	—	East Asian	—	UKB	—
PSS006038	—	—	1,651 individuals	—	European	non-white British ancestry	UKB	—
PSS006039	—	—	299 individuals	—	South Asian	—	UKB	—
PSS006040	—	—	5,120 individuals	—	European	white British ancestry	UKB	Testing cohort (heldout set)