Polygenic Score (PGS) ID: PGS004582

Predicted Trait
Reported Trait Platelet count during the first trimester
Mapped Trait(s) platelet count (EFO_0004309)
Released in PGS Catalog: Jan. 26, 2024
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Score Details

Score Construction
PGS Name PRSice_T1
Development Method
Name PRSice-2
Parameters clump r2 threshold: 0.2, clump-kb: 500kb, p-value threshold: 0.1135
Variants
Original Genome Build GRCh38
Number of Variants 407,667
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000563
Citation (link to publication) Yang Z et al. Blood (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
72,816 individuals (100%)
Score Development/Training
East Asian: 100%
2,949 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90302224
72,816 individuals,
0.0 % Male samples
East Asian
(Chinese)
SZ-MONN-NIPT
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
2,949 individuals,
0.0 % Male samples
East Asian
(Chinese)
NIPT PLUS Pregnancy with at least one platelet count measurements in each trimester during pregnancy. If multiple platelet count measurements were available, the earilest platelet count measurements within each trimester was chosen. 5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.

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
PPM020697 PSS011369|
East Asian Ancestry|
818 individuals
PGP000563 |
Yang Z et al. Blood (2023)
Reported Trait: Gestational Thrombocytopenia AUROC: 0.617 : 0.02

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
PSS011369 Pregnancy with at least one platelet count measurements in each trimester during pregnancy. If multiple platelet count measurements were available, the earilest platelet count measurements within each trimester was chosen. 818 individuals,
0.0 % Male samples
East Asian
(Chinese)
NIPT PLUS 5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.