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Chunk #0 — Introduction

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Genetic variants in mRNA untranslated regions.
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In the last decade, Genome Wide Association Studies (GWAS) have uncovered many robust associations between genetic variants and risk of numerous complex diseases. The availability of high-quality genotyping microarrays1–3 and the advent of large-scale human genome sequencing4–7, and their integration using appropriate statistical methods, like imputation10, have provided unprecedented high-resolution genetic profiles. These advances have allowed the analysis by GWAS of millions of genetic variants of the entire human genome with deep coverage.