Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization.

Abstract

Polygenic scores (PGSs) have transformed human genetic research and have multiple potential clinical applications. Here, we present a series of recent enhancements to the PGS Catalog (www.PGSCatalog.org), the largest findable, accessible, interoperable, and reusable (FAIR) repository of PGSs. We highlight the PGS Catalog Calculator (pgsc_calc, https://github.com/PGScatalog/pgsc_calc), an open-source, scalable and portable pipeline to reproducibly calculate PGSs that democratizes equitable PGS applications by implementing genetic ancestry estimation and score normalization using reference data.