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

利用评分计算和祖源标准化工具增强多基因评分目录

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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.

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