The Open Targets Genetics Portal is designed for for investigation of Genome Wide Association Study (GWAS) data to assist in identifying the causal genes underlying each association, and hence to prioritise drug targets. The portal aggregates and merges genetic associations curated from literature and newly-derived loci from UK Biobank with (open source) functional genomics data including epigenetics (e.g., chromatin conformation, chromatin interactions) and quantitative trait loci (e.g., eQTLs from GTEx, pQTL), and applies statistical fine-mapping across thousands of trait-associated loci, to resolve association signals and link each variant to its proximal and distal target gene(s), using a single evidence score. The Genetics Portal also provides the genetic evidence feed to the Open Targets Platform. Additionally, the Genetics Portal is open-source with the data available for download and the code available on GitHub.
The Genetics Core Team focuses on using human genetics data to guide therapeutic target identification and prioritisation, inform drug repositioning and predict toxicity effects. The team also maintains the Genetics Portal, a first of its kind tool that enables users to browse, visualise and interpret human genetics and genomics data to unravel the genetic underpinnings of human diseases and traits and to give insights into disease biology so that this knowledge gets translated into therapeutic hypothesis.
Genetic Analysis Team Leader