Polygenic Score (PGS) ID: PGS003430

Predicted Trait
Reported Trait Melanoma
Mapped Trait(s) melanoma (EFO_0000756)
Released in PGS Catalog: Oct. 17, 2023
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Terms and Licenses
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Score Details

Score Construction
PGS Name GTG_Melanoma
Development Method
Name Maximum clumping and thresholding (maxCT)
Parameters Optimal parameters: r2 = 0.01; kb = 5000; p = 3.802 * 10^-6
Variants
Original Genome Build hg19
Number of Variants 68
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000437
Citation (link to publication) Wong CK et al. Melanoma Res (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
94,054 individuals (100%)
Score Development/Training
European: 100%
16,434 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 26,635 cases
  • , 67,419 controls
]
European GenoMEL
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
[
  • 1,494 cases
  • , 14,940 controls
]
,
50.0 % Male samples
European UKB Range = [40, 69] years

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
PPM017104 PSS010127|
European Ancestry|
109,597 individuals
PGP000437 |
Wong CK et al. Melanoma Res (2023)
Reported Trait: Melanoma AUROC: 0.634 [0.618, 0.661]

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
PSS010127
[
  • 640 cases
  • , 108,957 controls
]
,
46.0 % Male samples
Range = [40, 69] years European UKB