The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation;
Publication: Nature Genetics
Samuel A. Lambert, Laurent Gil, Simon Jupp, Scott C. Ritchie, Yu Xu, Annalisa Buniello, Aoife McMahon, Gad Abraham, Michael Chapman, Helen Parkinson, John Danesh, Jacqueline A. L. MacArthur & Michael Inouye
10 March 2021
Summary
Researchers have led a report describing an important new set of reporting guidelines and an international open science database for polygenic risk scores, which are powerful genomic tools being increasingly used to predict disease outcomes and traits.
The Polygenic Score (PGS) Catalog is an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications.
The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with a platform for PGS dissemination, research and translation.
It promotes PGS reproducibility by providing a venue to annotate and distribute scores according to current exemplar reporting standards. As such, it allows users to reuse and evaluate PGSs, to firmly establish their predictive ability and facilitate further investigations of clinical utility.
- Visit the PGS Catalog website: https://www.PGSCatalog.org
