The Genotype-Tissue Expression (GTEx) project

The Genotype-Tissue Expression (GTEx) project

2013 June ; 45(6): 580–585. doi:10.1038/ng.2653. | The GTEx Consortium*
The Genotype-Tissue Expression (GTEx) project is a comprehensive resource established by the National Institutes of Health (NIH) to study the relationship between genetic variation and gene expression in human tissues. The project aims to address the gap in understanding the functional effects of genome-wide association study (GWAS) variants, many of which are located in regulatory regions. By collecting and analyzing a wide range of tissues from deceased donors, GTEx seeks to identify and catalog expression quantitative trait loci (eQTLs) and their association with disease-associated variants. The project includes biospecimen acquisition, processing, storage, and verification, as well as laboratory and data analysis. The data will be made available through the National Center for Biotechnology Information (NCBI) GTEx database and the dbGaP resource. The GTEx project is designed to provide a powerful tool for researchers to explore the genetic basis of common diseases and to advance our understanding of gene regulation and its underlying biological mechanisms.The Genotype-Tissue Expression (GTEx) project is a comprehensive resource established by the National Institutes of Health (NIH) to study the relationship between genetic variation and gene expression in human tissues. The project aims to address the gap in understanding the functional effects of genome-wide association study (GWAS) variants, many of which are located in regulatory regions. By collecting and analyzing a wide range of tissues from deceased donors, GTEx seeks to identify and catalog expression quantitative trait loci (eQTLs) and their association with disease-associated variants. The project includes biospecimen acquisition, processing, storage, and verification, as well as laboratory and data analysis. The data will be made available through the National Center for Biotechnology Information (NCBI) GTEx database and the dbGaP resource. The GTEx project is designed to provide a powerful tool for researchers to explore the genetic basis of common diseases and to advance our understanding of gene regulation and its underlying biological mechanisms.
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