The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Abstract
Polygenic [risk] scores (PGS) can enhance prediction and understanding of common diseases and traits. However, the reproducibility of PGS and their subsequent applications in biological and clinical research have been hindered by several factors, including: inadequate and incomplete reporting of PGS development, heterogeneity in evaluation techniques, and inconsistent access to, and distribution of, the information necessary to calculate the scores themselves. To address this we present the PGS Catalog (www.PGSCatalog.org), an open resource for polygenic scores. The PGS Catalog currently contains 238 published PGS and data from 92 publications for 113 traits, including diabetes, cardiovascular diseases, neurological disorders, cancers, body mass index and blood lipids. Full scoring information for each PGS is available, along with consistently curated metadata required for reproducibility as well as accurate application in independent studies. Using the PGS Catalog, we demonstrate that multiple PGS can be systematically evaluated to generate comparable performance metrics. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with an open platform for polygenic score dissemination, research and translation.
Description
Keywords
Journal Title
Conference Name
Journal ISSN
1546-1718
Volume Title
Publisher
Publisher DOI
Rights
Sponsorship
British Heart Foundation (None)
British Heart Foundation (RG/18/13/33946)
Engineering and Physical Sciences Research Council (EP/P020259/1)