Polygenic scores are particularly useful for predicting complex health conditions such as heart disease, diabetes, and certain cancers, where multiple genetic variants contribute to the overall risk.
Researchers with support from Health Data Research UK (HDR UK) funding have updated the Polygenic Score (PGS) Catalog, adding data from multi-ancestry or non-European populations and introducing the PGS Catalog calculator. These updates, described in a Nature Genetics paper, could help to increase the accessibility and equity of genetic disease risk predictions.
The PGS Catalog is the largest open database for polygenic scores with around 27,000 users from over 140 countries in the past year alone. These scores estimate an individual’s genetic predisposition to a specific trait or disease by summarising the effect of many different genetic variants across the genome. The project is a collaborative effort between the University of Cambridge, EMBL’s European Bioinformatics Institute (EMBL-EBI) and the GWAS Catalog, supported by HDR UK and other funders.
First author Sam Lambert, Assistant Professor of Health Data Science at University of Cambridge and Visiting Researcher at EMBL-EBI, said:
“Our goal with the PGS Catalog and the new Calculator is to lower the barrier to entry for using polygenic scores. By providing an open-source, user-friendly tool that handles the complexities of genetic data, we’re making it possible for researchers and clinicians to apply these predictors of genetic risk across diverse populations. This is an important step towards ensuring that the benefits of genetic research are shared equitably, regardless of ancestry or background.”
Read more on EMBL-EBI’s website
