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Chunk #2 — Introduction

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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To integrate knowledge generated from these large-scale transcriptome studies and shed light on disease biology, we developed PrediXcan11, a gene-level association approach that tests the mediating effects of gene expression levels on phenotypes. PrediXcan is implemented on GWAS or sequencing studies (i.e., studies with genome-wide interrogation of DNA variation and phenotypes). It imputes transcriptome levels with models trained in measured transcriptome datasets (e.g., GTEx). These predicted expression levels are then correlated with the phenotype in a gene association test that addresses some of the key limitations of GWAS11.