PGS Publication: PGP000155

Publication Information (EuropePMC)
Title Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.
PubMed ID 32054687(Europe PMC)
doi 10.1136/jmedgenet-2019-106316
Publication Date Feb. 13, 2020
Journal J Med Genet
Author(s) Bobbili DR, Banda P, Krüger R, May P.
Released in PGS Catalog: March 22, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000750
(PRS_43)
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Parkinson's disease Parkinson disease 43
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000750/ScoringFiles/PGS000750.txt.gz

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
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM001904 PGS000750
(PRS_43)
 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.703 [0.698, 0.708] — Sex, singleton loss of function variant count, Parkinson's disease family history. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001905 PGS000750
(PRS_43)
 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.653 [0.647, 0.659] — Sex, singleton loss of function variant count. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001906 PGS000750
(PRS_43)
 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.616 [0.611, 0.621] — Sex Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit

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
PSS000952 Cases are individuals with sporadic Parkinson's disease. —
[
  • 340 cases
  • , 146 controls
]
 — European, NR European, Not reported PPMI —