PTL-PRS: an R package for transfer learning of polygenic risk scores with pseudovalidation.

ABSTRACT:

Summary

Polygenic risk scores (PRSs) are essential tools for predicting individual phenotypic risk but often lack accuracy in non-European ancestry groups. Transfer Learning for Polygenic Risk Scores (TL-PRS) addresses this challenge by leveraging European PRSs to improve prediction in underrepresented ancestries but requires privacy-sensitive individual-level data and has low computational efficiency. Therefore, we introduce Pseudovalidated Transfer Learning for PRS (PTL-PRS), an extension of TL-PRS that incorporates pseudovalidation to eliminate the need for individual-level data and includes further software optimization. For pseudovalidation, PTL-PRS generates pseudo-summary statistics for training and validation and evaluates model performance with the pseudo-R2 metric. To imp

SUBMITTER: Cho B 

PROVIDER: S-EPMC12529095 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature