Polygenic Score (PGS) ID: PGS018361

Predicted Trait
Reported Trait Cardiac MRI 3D diffusion-autoencoder latent phenotype Z6_S2
Mapped Trait(s) magnetic resonance imaging of the heart (EFO_0022611)
Additional Trait Information Unsupervised image-derived latent phenotype (latent dimension Z6, DiffAE model seed S2) learnt from temporally-resolved cardiac MRI, UK Biobank.
Released in PGS Catalog: July 15, 2026
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Score Details

Score Construction
PGS Name GWAS_disc_Z6_S2
Development Method
Name LDpred2-auto
Parameters LDpred2-auto applied to the discovery GWAS summary statistics (REGENIE, additive model). Candidate variants pruned with PLINK2 (250 kb window, step 5, unphased hardcall r2<0.5), missing call rate <0.1, INFO>0.4, MAF>0.01, plus all conditionally-independent genome-wide-significant variants (~1.28M candidates).
Variants
Original Genome Build GRCh37
Number of Variants 1,105,485
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000826
Citation (link to publication) Ometto S et al. Nat Commun (2026)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
47,740 individuals (100%)
Score Development/Training
European: 100%
314,774 individuals (100%)

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90856944
 47,740 individuals European UKB
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
— 314,774 individuals European UKB — — — — —

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

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