A tool for translating polygenic scores onto the absolute scale using summary statistics.

ABSTRACT: There is growing interest in the clinical application of polygenic scores as their predictive utility increases for a range of health-related phenotypes. However, providing polygenic score predictions on the absolute scale is an important step for their safe interpretation. We have developed a method to convert polygenic scores to the absolute scale for binary and normally distributed phenotypes. This method uses summary statistics, requiring only the area-under-the-ROC curve (AUC) or variance explained (R²) by the polygenic score, and the prevalence of binary phenotypes, or mean and standard deviation of normally distributed phenotypes. Polygenic scores are converted using normal distribution theory. We also evaluate methods for estimating polygenic score AUC/R² from

SUBMITTER: Pain O 

PROVIDER: S-EPMC8904577 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature