The paper presents the eQTL Catalogue, a resource containing uniformly processed eQTLs from 21 studies, enabling integrative analysis and identification of cell-type-specific eQTLs and disease colocalisations.

Nature Genetics · Sep 1, 2021Peer-reviewedGenomics

The Polygenic Score Catalog: an open database for reproducibility and systematic evaluation

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

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

Identifiers for the 21st century:How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data

Julie A. McMurry, Nick Juty, Niklas Blomberg, Tony Burdett, Tom Conlin, Nathalie Conte, Mélanie Courtot, John Deck, Michel Dumontier, Donal K. Fellows, Alejandra N Gonzalez-Beltran, Philipp Gormanns, Jeffrey Sean Grethe, Janna Hastings, Henning Hermjakob, , Helen Parkinson

The paper outlines ten lessons for designing, provisioning, and reusing persistent identifiers to improve data integration in life sciences.

PLoS Biology · Jun 29, 2017Peer-reviewedBioinformatics