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June 1, 201310,182 citationsOpen Access

The Genotype-Tissue Expression (GTEx) project.

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JLJohn T. Lonsdale

Key Points

  • The aim is to investigate the relationship between genetic variation and gene expression across different human tissues, addressing disease susceptibility mechanisms.
  • Developed a resource database for genetic and expression data
  • Established a tissue bank for collecting human samples
  • Fostered collaboration within the scientific community for comprehensive studies
  • Identified diverse genetic variants linked to gene expression levels
  • Facilitated understanding of how regulatory polymorphisms influence disease phenotypes
  • Provided a framework for future genomic research across multiple tissues

Abstract

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

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Cite This Study

John T. Lonsdale (2013) studied this question.

synapsesocial.com/papers/69835a63d56ccf0362f35b57https://doi.org/10.1038/ng.2653
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