This study shows that plasma protein quantitative trait loci (pQTL) support therapeutic hypotheses more effectively than other genetic evidence, increasing the likelihood of drug development success.

medRxiv · Mar 5, 2026 · PreprintGenetic & Genomic Medicine

The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity

María Cerezo, Elliot Sollis, Yue Ji, Elizabeth Lewis, Ala Abid, Karatuğ Ozan Bircan, Peggy Hall, James D. Hayhurst, Sajo John, Abayomi Mosaku, Santhi Ramachandran, Amy Foreman, Arwa Ibrahim, James Alastair McLaughlin, Zoë May Pendlington, , Laura Wiseman Harris

The GWAS Catalog now holds 625,113 curated SNP-trait associations from 6,921 publications plus >85K summary statistics datasets, with a new GWAS-SSF submission standard and GRCh38 harmonisation.

Nucleic Acids Research · Oct 22, 2024Peer-reviewedGenetics✦ In-depth digest

Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci

Nurlan Kerimov, Ralf Tambets, James D. Hayhurst, Ida Rahu, Peep Kolberg, Uku Raudvere, Ivan Kuzmin, Anshika Chowdhary, Andreas Vija, Hans Teras, Masahiro Kanai, Jacob C. Ulirsch, Mina Ryten, John Hardy, Sebastian Guelfi, , Kaur Alasoo

The paper visualises molecular QTLs to better understand genetic effects on gene expression and identifies causal genes at GWAS loci.

PLoS Genetics · Sep 18, 2023Peer-reviewedGenomics

A community driven GWAS summary statistics standard

James D. Hayhurst, Annalisa Buniello, Laura Wiseman Harris, Abayomi Mosaku, Christopher Chang, Christopher R. Gignoux, Konstantinos Hatzikotoulas, Mohd Anisul Karim, Samuel A. Lambert, Matthew Lyon, Aoife McMahon, Yukinori Okada, Nicola Pirastu, Nigel William Rayner, Jeremy Schwartzentruber, , Inês Barroso

The paper defines a standard format for GWAS summary statistics to improve data sharing and analysis.

bioRxiv · Jul 15, 2022 · PreprintBioinformatics

eQTL Catalogue: a compendium of uniformly processed human gene expression and splicing QTLs

Nurlan Kerimov, James D. Hayhurst, Kateryna Peikova, Jonathan R. Manning, Peter Walter, Liis Kolberg, Marija Samoviča, Manoj Pandian Sakthivel, Ivan Kuzmin, Stephen J. Trevanion, Tony Burdett, Simon Jupp, Helen Parkinson, Irene Papatheodorou, Andrew D. Yates, , Kaur Alasoo

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

Open Targets Genetics: An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Edward Mountjoy, Ellen M. Schmidt, Miguel Carmona, Gareth Peat, Alfredo Miranda, Luca Fumis, James D. Hayhurst, Annalisa Buniello, Jeremy Schwartzentruber, Mohd Anisul Karim, Daniel J. Wright, Andrew Hercules, Eliseo Papa, Eric B. Fauman, Jeffrey C. Barrett, , Maya Ghoussaini

The paper presents an open resource for fine-mapping and gene prioritization at GWAS loci, identifying causal variants and genes and improving drug target identification.

bioRxiv · Sep 16, 2020 · PreprintGenetics