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Chunk #81 — WHAT IS KNOWN FROM GWAS STUDIES — Conclusions and perspectives

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Genetic variants in mRNA untranslated regions.
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Genome-wide association studies (GWAS) have uncovered new areas of investigation into the association between different diseases/traits and a large number of genetic loci. Since 2005,115 GWAS have revolutionized the study of complex traits, yielding to-date more than 24,218 unique SNP-trait associations from 2,518 publications. This somehow implies that, quite frequently, genotype and phenotype are linked, more generally, the mechanisms by which each gene affects the disorders remain largely unknown, and often are not discussed within the reports. It requires the support of functional indications and tools for downstream statistical and bioinformatic analyses.