standards > reporting guideline > DOI:10.25504/FAIRsharing.2LyTxE


ready Polygenic Risk Score Reporting Standards

Abbreviation: PRS-RS


General Information
The Polygenic Risk Score Reporting Standards (PRS-RS) provides the minimal information expected of authors to promote the internal validity, transparency, and reproducibility of PRS by requiring authors to detail the study population, statistical methods, and clinical utility of a published score. PRSs, which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. These guidelines update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, data deposition is encouraged via the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the aim is to facilitate translation into clinical care and progress towards defining best practice.



How to cite this record FAIRsharing.org: PRS-RS; Polygenic Risk Score Reporting Standards; DOI: https://doi.org/10.25504/FAIRsharing.2LyTxE; Last edited: April 21, 2021, 12:57 p.m.; Last accessed: May 11 2021 11:48 a.m.

Publication for citation  Improving reporting standards for polygenic scores in risk prediction studies Wand H, Lambert SA, [28 other Authors, ClinGen Complex Diseases working group], Inouye M, Wojcik GL; Nature ; 2021; 10.1038/s41586-021-03243-6;


This record is maintained by slambert  ORCID

Record added: March 11, 2021, 11:48 a.m.
Record updated: March 17, 2021, 12:19 p.m. by slambert.

Show edit history



Support

General

Additional Information


Tools

    No tools defined


Schemas

No XSD schemas defined


Access / Retrieve Data

Conditions of Use

Applies to: Data use

Data Release




Publications

Improving reporting standards for polygenic scores in risk prediction studies

Wand H, Lambert SA, [28 other Authors, ClinGen Complex Diseases working group], Inouye M, Wojcik GL
Nature 2021

View Paper (PubMed) View Publication

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Related Databases (1)
The Polygenic Score Catalog
The Polygenic Score Catalog is an open database of published polygenic scores (PGS; also referred to as polygenic risk scores [PRS] or genetic/genomic risk scores [GRS]). Each PGS in the Catalog is consistently annotated with relevant metadata; including scoring files (variants, effect alleles/weights), annotations of how the PGS was developed and applied, and evaluations of their predictive performance.

Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

Maintains