Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers.


Journal

Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011

Informations de publication

Date de publication:
06 May 2024
Historique:
accepted: 15 04 2024
revised: 02 04 2024
received: 21 02 2024
medline: 6 5 2024
pubmed: 6 5 2024
entrez: 6 5 2024
Statut: aheadofprint

Résumé

Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele dosages for genetic variants associated with the trait or disease in question. Present approaches for calculating PGS from genotypes are often inefficient and labor-intensive, limiting transferability into clinical applications. Here, we present 'Imputation Server PGS', an extension of the Michigan Imputation Server designed to automate a standardized calculation of polygenic scores based on imputed genotypes. This extends the widely used Michigan Imputation Server with new functionality, bringing the simplicity and efficiency of modern imputation to the PGS field. The service currently supports over 4489 published polygenic scores from publicly available repositories and provides extensive quality control, including ancestry estimation to report population stratification. An interactive report empowers users to screen and compare thousands of scores in a fast and intuitive way. Imputation Server PGS provides a user-friendly web service, facilitating the application of polygenic scores to a wide range of genetic studies and is freely available at https://imputationserver.sph.umich.edu.

Identifiants

pubmed: 38709879
pii: 7665643
doi: 10.1093/nar/gkae331
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Medical University of Innsbruck

Informations de copyright

© The Author(s) 2024. Published by Oxford University Press on behalf of Nucleic Acids Research.

Auteurs

Lukas Forer (L)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.

Daniel Taliun (D)

Canada Excellence Research Chair in Genomic Medicine, McGill University, Montreal, Québec, Canada.
Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montréal, Québec, Canada.

Jonathon LeFaive (J)

Department of Biostatistics and the Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

Albert V Smith (AV)

Department of Biostatistics and the Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

Andrew P Boughton (AP)

Department of Biostatistics and the Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

Stefan Coassin (S)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.

Claudia Lamina (C)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.

Florian Kronenberg (F)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.

Christian Fuchsberger (C)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
Department of Biostatistics and the Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Institute for Biomedicine, Eurac Research, Bolzano, Italy.

Sebastian Schönherr (S)

Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.

Classifications MeSH