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The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human traits and diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a blueprint for the functional interpretation of genetic loci discovered by Genome-Wide Association Studies (GWAS). Across a broad set of complex traits and diseases, we find widespread dose-dependent effects of RNA expression and splicing, with higher impact on molecular phenotypes translating into higher impact downstream. Using colocalization and association approaches that take into account the observed allelic heterogeneity, we propose potential target genes for 47% (2,519 out of 5,385) of the GWAS loci examined. Our results demonstrate the translational relevance of the GTEx resources and highlight the need to increase their resolution and breadth to further our understanding of the genotype-phenotype link.

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