PGS Catalog standardizes 192 curated polygenic scores and metadata (86 traits); reapplied in UK Biobank, eight of nine colorectal cancer scores predicted disease in European-ancestry participants.

Nature Genetics · Mar 10, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Improving reporting standards for polygenic scores in risk prediction studies

Hannah Wand, Samuel A. Lambert, Cecelia P. Tamburro, Michael A. Iacocca, Jack William O’Sullivan, Catherine H. Sillari, Iftikhar J. Kullo, Robb K. Rowley, Jacqueline S. Dron, Deanna Brockman, Eric Venner, Mark I. McCarthy, Antonis C. Antoniou, Douglas F. Easton, Robert Alexander Hegele, , Genevieve L. Wojcik

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

Nature · Mar 10, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Joannella Morales, Danielle Welter, Emily Bowler-Barnett, María Cerezo, Laura Wiseman Harris, Aoife McMahon, Peggy Hall, Heather Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, , Jacqueline A. L. MacArthur

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.

Genome biology · Feb 15, 2018Peer-reviewedGenetics