Polygenic Score (PGS) ID: PGS004300

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: June 12, 2024
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Score Details

Score Construction
PGS Name GenoBoost_colorectal_cancer_0
Development Method
Name GenoBoost
Parameters lr=0.2, #snv=70, model=Additive GenoBoost
Variants
Original Genome Build hg19
Number of Variants 70
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000546
Citation (link to publication) Ohta R et al. Nat Commun (2024)
Ancestry Distribution
Score Development/Training
European: 100%
269,710 individuals (100%)
PGS Evaluation
European: 100%
1 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
—
[
  • 5,563 cases
  • , 264,147 controls
]
,
46.4 % Male samples
 European
(White British)		 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
PPM020368 PSS011340|
European Ancestry|
67,428 individuals
 PGP000546 |
Ohta R et al. Nat Commun (2024)
 Reported Trait: Colorectal cancer — AUROC: 0.66861 Covariate-adjusted pseudo-R2: 0.00382
AUPRC: 0.66861		 age, sex, PC1-10 —

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
PSS011340 — —
[
  • 1,306 cases
  • , 66,122 controls
]
,
46.0 % Male samples
 — European
(White British)		 — UKB —