Summary
This paper presents Open Targets' framework for using human genetics and genomics to generate and prioritise therapeutic hypotheses for complex diseases. The consortium integrates large-scale experimental data and informatic platforms to systematically associate genetic variants with drug targets through a multi-evidence approach combining GWAS, functional genomics, epigenetics, rare disease genetics, and experimental perturbation data. The perspective articulates how genetic evidence, when combined with tractability and safety assessments, can accelerate target identification for drug development.
UK applicability
The Open Targets platform incorporates UK Biobank data and is openly accessible to UK-based researchers and industry partners. The methods and predictions may inform UK pharmaceutical research priorities and NHS treatment development strategies, though the framework is international in scope and application.
Key measures
Target prioritisation attributes including clinical precedence, tractability, and safety; locus-to-gene predictions; genome-wide association signals; variant effect predictions; gene burden analyses
Outcomes reported
The study describes Open Targets' integrated informatic platform and methods for systematically building target–disease associations using human genetics and genomic data from multiple large-scale sources including GWAS, UK Biobank, and FinnGen, combined with functional genomic and perturbation data.
Topic tags
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