Polygenic Score (PGS) ID: PGS004689

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: March 18, 2024
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Score Details

Score Construction
PGS Name colorectal_cancer
Development Method
Name LDPred2
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 1,077,789
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000596
Citation (link to publication) Hu J et al. JNCI Cancer Spectr (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
309,154 individuals (100%)
Score Development/Training
European: 100%
365,812 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
—
[
  • 4,957 cases
  • , 304,197 controls
]
 European
(Finnish)		 FinnGen
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
—
[
  • 5,091 cases
  • , 360,721 controls
]
 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
PPM020874 PSS011433|
European Ancestry|
40,648 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.556 — — —

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
PSS011433 — —
[
  • 519 cases
  • , 40,129 controls
]
 — European — UKB —