The new GeneticScores.org platform enables standardised calculation of polygenic scores from the Polygenic Score (PGS) Catalog, while reducing the need for local bioinformatics infrastructure or custom pipelines. The new service was developed by EMBL-EBI in collaboration with the University of Cambridge. 

Polygenic scores estimate a person’s inherited predisposition to traits or disease, based on the additive effects of many common genetic variants across the genome. 

GeneticScores.org runs the PGS Catalog Calculator pipeline in a cloud-based environment, making it easier for researchers to apply existing scores to their own data.

Training and features  

The GeneticScores.org platform includes an online tool that mirrors the functionality of the open-source PGS Catalog Calculator, which is also available for local deployment. In addition to the calculator, the platform offers:

• A methods comparison explorer for comparing different approaches to polygenic score development 
• Training materials and tutorials
• Curated synthetic datasets for AI researchers to test and train models without handling sensitive human genetic data

Secure data use

Given the sensitivity of human genomic data, GeneticScores.org incorporates multiple layers of data protection. Users must sign a data processing agreement before uploading data. All files are encrypted while being transferred and stored, and isolated compute environments ensure confidentiality.

Explore the platform at GeneticScores.org, or access the PGS Catalog Calculator workflow on GitHub for local use, with tools, documentation, and tutorials.

Funding

This resource is part of the INTERVENE project and is funded by the European Union’s Horizon 2020 programme.