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Chunk #3 — INTRODUCTION

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Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.
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signals and identifying the likely causal variant(s) and target gene(s) at trait-associated loci. These include: (i) systematic statistical fine-mapping across thousands of trait-associated loci to resolve association signals, (ii) cross-trait/disease-disease colocalisation analysis and disease-molecular trait colocalisation analysis across 92 tissues and cell types, (iii) linking each variant to its likely target gene(s), using a single evidence score aggregating across a range of functional genomics datasets (disease agnostic), (iv) prediction of the likely causal gene(s) for all GWAS-associated loci using a machine learning model combining genetics and functional genomics information in a single ‘locus to gene’ (L2G) score, (v) Phenome Wide Association Study (PheWAS) analysis across a wide range of diseases and traits, (vi) enriched trait—gene evidence with orthogonal evidence including clinical trials that might support therapeutic hypothesis by linking with the Open Targets Platform (https://www.targetvalidation.org/) (5,6).