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      The GTEx Consortium atlas of genetic regulatory effects across human tissues

      The GTEx Consortium
      Science
      American Association for the Advancement of Science (AAAS)

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          Abstract

          The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

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          Author and article information

          Journal
          Science
          Science
          American Association for the Advancement of Science (AAAS)
          0036-8075
          1095-9203
          September 10 2020
          September 11 2020
          September 11 2020
          September 10 2020
          : 369
          : 6509
          : 1318-1330
          Article
          10.1126/science.aaz1776
          7737656
          32913098
          62cf88bc-c164-449b-a49e-788fa9fddc08
          © 2020

          https://www.sciencemag.org/about/science-licenses-journal-article-reuse

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