The Polygenic Score Catalog: New Functionality and Tools to Enable FAIR Research

Overview

Journal medRxiv

Date 2024 Jun 10

PMID 38853961

Authors

Samuel A Lambert

Benjamin Wingfield

Joel T Gibson

Laurent Gil

Santhi Ramachandran

Florent Yvon

Shirin Saverimuttu

Emily Tinsley

Elizabeth Lewis

Scott C Ritchie

Jingqin Wu

Rodrigo Canovas

Aoife McMahon

Laura W Harris

Helen Parkinson

Michael Inouye

Affiliations

Soon will be listed here.

Abstract

Polygenic scores (PGS) have transformed human genetic research and have multiple potential clinical applications, including risk stratification for disease prevention and prediction of treatment response. 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 PGS. These include expansions in data content and ancestral diversity as well as the addition of new features. We further present the PGS Catalog Calculator (pgsc_calc, https://github.com/PGScatalog/pgsc_calc), an open-source, scalable and portable pipeline to reproducibly calculate PGS that securely democratizes equitable PGS applications by implementing genetic ancestry estimation and score normalization using reference data. With the PGS Catalog & calculator users can now quantify an individual's genetic predisposition for hundreds of common diseases and clinically relevant traits. Taken together, these updates and tools facilitate the next generation of PGS, thus lowering barriers to the clinical studies necessary to identify where PGS may be integrated into clinical practice.

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