King's College London team publishes polygenic risk score calculation guide in Nature Protocols
Researchers from King's College London have published a tutorial in Nature Protocols that sets out standardized methods for computing polygenic risk scores. These scores estimate an individual's genetic liability to a trait or disease based on their genotype profile and genome-wide association study data. The guide walks through quality control steps, calculation methods, and how to interpret the results. Polygenic risk scores currently explain only a small fraction of trait variance, but their correlation with genetic liability has made them a common tool in biomedical research. They are used to assess shared causes between different conditions, evaluate the clinical utility of genetic data for complex disease, and in experimental studies comparing outcomes like gene expression and cellular response to treatment between people with low and high scores. The authors provide an online tutorial and offer recommendations to improve consistency across studies, noting that limited guidelines have led to inconsistencies and misinterpretation. As genome-wide association study sample sizes grow and polygenic risk scores become more powerful, the authors say the scores are positioned to play a key role in research and stratified medicine.
The tutorial addresses methodological inconsistencies as polygenic scores are increasingly applied in research and clinical risk prediction, offering best practices as the field moves toward larger studies and potential medical use.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].