Polygenic Score (PGS) ID: PGS004838

Predicted Trait
Reported Trait Type 2 diabetes (T2D)
Mapped Trait(s) type 2 diabetes mellitus (MONDO_0005148)
Released in PGS Catalog: March 28, 2024
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Score Details

Score Construction
PGS Name t2d_PRSmix_sas
Development Method
Name PRSmix
Parameters power=0.95; p=0.05
Variants
Original Genome Build hg38
Number of Variants 6,586,458
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000604
Citation (link to publication) Truong B et al. Cell Genom (2024)
Ancestry Distribution
Score Development/Training
South Asian: 100%
35,350 individuals (100%)
PGS Evaluation
South Asian: 100%
1 Sample Sets

Development Samples

Score Development/Training
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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
35,350 individualsSouth AsianG&HAny occurrence of ICD10 E11x OR SNOMED codes 44054006, 237599002, 313436004, 422099009, 703138006
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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.

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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
PPM021063PSS011474|
South Asian Ancestry|
8,837 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Type 2 diabetesIncremental R2 (Full model versus model with only covariates): 0.061 [0.051, 0.07]age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10Incremental R2 (Full model versus model with only covariates)
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Evaluated Samples

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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
PSS0114748,837 individualsSouth AsianG&H
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