PGS Publication: PGP000295

Publication Information (EuropePMC)
Title Polygenic risk impacts PDGFRA mutation penetrance in nonsyndromic cleft lip and palate.
PubMed ID 35147171(Europe PMC)
doi 10.1093/hmg/ddac037
Publication Date Feb. 11, 2022
Journal Hum Mol Genet
Author(s) Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, Bejar N, Ruiz OE, Tandon B, Eisenhoffer GT, Kiss DL, Huff CD, Letra A, Hecht JT.
Released in PGS Catalog: March 16, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000295 |
Yu Y et al. Hum Mol Genet (2022)
Nonsyndromic cleft lip with or without cleft palate cleft lip,
Cleft palate

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)
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012907 PGS002266
European Ancestry|
72,542 individuals
PGP000295 |
Yu Y et al. Hum Mol Genet (2022)
Reported Trait: Nonsyndromic cleft lip with or without cleft palate AUROC: 0.66

Evaluated Samples

PGS Sample Set ID
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
PSS009607 cases diagnosed with cleft lip and palate or cleft lip, unspecified cleft type
  • 46 cases
  • , 72,496 controls
(Non-Hispanic European)