PGS Publication: PGP000296

Publication Information (EuropePMC)
Title Deep learning enables genetic analysis of the human thoracic aorta.
PubMed ID 34837083(Europe PMC)
doi 10.1038/s41588-021-00962-4
Publication Date Nov. 26, 2021
Journal Nat Genet
Author(s) Pirruccello JP, Chaffin MD, Chou EL, Fleming SJ, Lin H, Nekoui M, Khurshid S, Friedman SF, Bick AG, Arduini A, Weng LC, Choi SH, Akkad AD, Batra P, Tucker NR, Hall AW, Roselli C, Benjamin EJ, Vellarikkal SK, Gupta RM, Stegmann CM, Juric D, Stone JR, Vasan RS, Ho JE, Hoffmann U, Lubitz SA, Philippakis AA, Lindsay ME, Ellinor PT.
Released in PGS Catalog: April 1, 2022

Associated Polygenic Score(s)

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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)
PGP000296 |
Pirruccello JP et al. Nat Genet (2021)
Ascending thoracic aortic diameter cardiovascular disease biomarker measurement,
aortic measurement

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
PPM012908 PGS002267
European Ancestry|
385,621 individuals
PGP000296 |
Pirruccello JP et al. Nat Genet (2021)
Reported Trait: Incident thoracic aortic aneurysm or dissection HR: 1.43 [1.32, 1.54] Sex, prevalent diagnoses of type 2 diabetes or hypertension, tobacco smoking history (the number of pack years of tobacco smoking), body mass (the cubic natural spline of body mass index) and age (the cubic natural spline of age at enrollment).

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
PSS009608 Median = 11.2 yrs
  • 685 cases
  • , 384,936 controls
(British, Irish)