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Chunk #1 — Introduction

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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Many transcriptome studies have been conducted where genotypes and expression levels are assayed for a large number of individuals5–8. The most comprehensive transcriptome dataset, in terms of examined tissues, is the Genotype-Tissue Expression Project (GTEx): a large-scale effort where DNA and RNA were collected from multiple tissue samples from nearly 1000 individuals and sequenced to high coverage9,10. This remarkable resource provides a comprehensive cross-tissue survey of the functional consequences of genetic variation at the transcript level.