Enhancing the utility of polygenic scores in Alzheimer's disease through systematic curation and annotation.

ABSTRACT:

Introduction

Polygenic Scores (PGSs) assess cumulative genetic risk variants that contribute to the association with complex diseases like Alzheimer's Disease (AD). The PGS Catalog is a valuable repository of PGSs of various complex diseases, but it lacks standardized annotations and harmonization, making the information difficult to integrate for a specific disease.

Methods

In this study, we curated 44 PGS datasets for AD from the PGS Catalog, categorized them into five methodological groups, and annotated 813,257 variants to nearby genes. We aligned the scores based on the "GWAS significant variants" (GWAS-SV) method with the GWAS Catalog and flagged redundant files and those with a "limited scope" due to insufficient external GWAS support. Using rank aggregation (RA), we

SUBMITTER: Mwesigwa S 

PROVIDER: S-EPMC11832703 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature