Description
Genome-wide association studies (GWAS) have identified a large number of variants robustly associated with complex traits and diseases. However, pinpointing the gene(s) mediating such associations remains a major challenge as the majority of variants are found in the non-coding regions of the genome. Identifying the right target is key in drug discovery as drugs supported by GWAS evidence are twice as likely to be approved for clinical use.
In this workshop, we will present Open Targets Genetics 1,2, an open access resource which makes robust connections between GWAS-associated loci and likely causal genes, to enable the identification of new drug targets.
The portal uses a wide range of resources including FinnGen, GWAS Catalog both curated from literature and full summary statistics (including over 3,000 UK Biobank phenotypes) to locate over 100,000 trait-associated loci. Since our first release in 2018, we have applied systematic fine-mapping across 133,441 published GWAS loci to identify a set of potentially causal variants at each locus. We also provide systematic disease-disease and disease-molecular trait colocalization results across 92 cell types and tissues. More recently, we have implemented a machine learning approach, Locus2Gene2, to systematically prioritize causal genes at all trait-associated loci.
Our analyses are made available through our web portal, for bulk download, and via a GraphQL API, making it one of the most comprehensive tools for users to prioritize genes at associated loci and assess their potential as drug targets.
Participants will learn to use Open Targets Genetics to establish, visualize and interpret links between genes, variants, and diseases, find shared susceptibility loci between traits, investigate molecular trait-disease colocalization and prioritize drug targets.
We will start the session with a short presentation about the portal, followed by a live demo of its features and how to access the data. Participants are encouraged to work through an exercise prior to coming to the workshop to familiarize themselves with Open Targets Genetics and the process leading to gene prioritization.
