Publication: Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
Publication Date: Feb. 1, 2019
Journal: Diabetes Care
Authors: Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA.
PGS Associated with PGP000014
PGS Developed By This Study
|Polygenic Score (PGS) ID||PGS Name||Publication ID||Reported Trait||Mapped Trait(s) (EFO)||Number of Variants||PGS Download Links|
|PGS000024||GRS2||Sharp SA et al. Diabetes Care (2019)||Type 1 diabetes||type I diabetes mellitus||67||FTP Link|
External PGS Evaluated By This Study
PGS Performance MetricsDisclaimer: 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 (PPM) ID||Evaluated Score||PGS Catalog Sample Set (PSS) ID||Performance Source||Trait||
PGS Effect Sizes
(per SD change)
|PGS Classification Metrics||Other Metrics||Covariates Included in PGS Model||PGS Performance: Other Relevant Information|
|PPM000048||PGS000024 (GRS2)||PSS000032||Sharp SA et al. (2019)||Reported Trait: Type 1 diabetes||—||AUROC: 0.921||Youden index: 0.698||—||—|
|PPM000049||PGS000021 (GRS1)||PSS000032||Sharp SA et al. (2019) Ext.||Reported Trait: Type 1 diabetes||—||AUROC: 0.893||—||—||—|
|PGS Catalog Sample Set (PSS) ID||Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases)||Sample Numbers||Sample Ancestry||Additional Ancestry Description||Cohort(s)||Additional Sample/Cohort Information|
|PSS000032||Type 1 Diabetes Case Definition = Clinical diagnosis of diabetes at less than or equal to 20 years of age; On insulin within 1 year from the time of diagnosis; Still on insulin at the time of recruit- ment; Not using oral antihyperglycemic agents; Did not ever self-report as having type 2 diabetes (T2D)||374,000 individuals
[ 387 cases, 373,613 controls]