The Polygenic Score Catalog: new functionality and tools to enable FAIR research.

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
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.
Journal MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES
ISSN
Published 31 May 2024
Volume
Issue
Pages
DOI 10.1101/2024.05.29.24307783
Type Preprint
Sponsorship