A step-change in common disease genetics in the Open Targets Platform

Over the last 10 years, Open Targets has shared foundational data and resources to enhance our collective ability to identify and prioritise therapeutic drug targets. One of our strategic themes has been to democratise access to the scattered human genetics evidence in a way that can inform the selection of safe and effective drug targets. 

Today, we announced a major public release of the Open Targets Platform¹, containing a completely updated and revised version of the signature data, analyses and features previously included in Open Targets Genetics². Working closely with our partners at Ensembl, GWAS Catalog and eQTL Catalogue and leveraging incredibly valuable public resources like gnomAD, FinnGen and the UK Biobank Pharma Proteomics Project, the new data incorporated in the Platform provides a pan-GWAS view of the genetic architecture of common traits. 

To further assist the interpretation of the observed associations in the context of target discovery, the Platform now includes comprehensive variant annotation and the results of state-of-the-art large scale statistical analysis, including fine-mapping, colocalisation and locus-to-gene assignment across all complex and molecular traits. The more than 2.6 million GWAS credible sets identified are contextualised with results from gene burden analysis, pharmacogenetics or predominantly rare variation resources, drawing a richer map of the phenotypic effects of a broader range of variation. Understanding the effects of drug and clinical candidate modulation, and the impact of in vitro or in vivo perturbation within the same portal enables the formulation of more complex therapeutic hypotheses.

Why did we do this?

Human genetics remains key to identifying therapeutic opportunities that address disease-causing mechanisms. Community efforts have structured and archived publicly available genetic information, however Open Targets recognised an unmet need to connect different types of genetic evidence, post-process some of the observed signals, and provide supporting data and tools to inform target selection.

We created Open Targets Genetics in 2018 to centralise the results from large statistical genetics analyses, and developed our Locus-to-Gene machine learning pipeline to predict likely causal genes underlying GWAS across diseases and traits³. Evidence from Open Targets Genetics fed into the Open Targets Platform, which integrates and delivers additional target prioritisation tooling across a broader range of disease-causing evidence, including rare disease genetics, drug and clinical candidate information, and perturbation screenings in cellular or animal models. These two resources worked together to provide academic and industry researchers with a baseline of public knowledge relevant to target identification and prioritisation, and the ability to build therapeutic hypotheses.

The technical challenge of maintaining Open Targets Genetics was high, and as technologies evolved and the breadth and depth of data increased, we identified an opportunity to bring our two different products together and create a unified resource to seamlessly access human genetic and target discovery information. As of today, the Platform integrates and evaluates gene-disease associations from a wider range of sources and unites our user communities while continuing Open Targets Genetics’ original mission. The new toolset will unblock faster iteration grounded on a solid scientific foundation and scalable open-source pipelines, setting up our informatics ecosystem for future challenges.

Our new release is the result of two years of collaboration across the Open Targets partnership, aiming to centralise, standardise, and re-analyse publicly available studies. We hope that this contribution to the scientific community, sharing analyses and tools openly, will help avoid duplication of efforts and support informed, high-quality target selection.

Looking Ahead

We are excited about the new capabilities that we are sharing today and the developments that we will build from this new foundation. We would be delighted to hear feedback on this work. The Platform’s evolution is guided by the community’s use cases, as we continue to add new data, analyses and tools that support the development of new safe and effective medicines.  

Please leave your thoughts at on the Open Targets Community.  

References

1. Buniello et al. (2025) Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research
2. Ghoussaini et al. (2021) Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. Nucleic Acids Research
3. Mountjoy et al. (2021) An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. Nature Genetics