The Genotype-Tissue Expression (GTEx) project
2013/05/29 by John Lonsdale, John T. Lonsdale, Jeffrey A. Thomas +159 · 79 citations
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Genetic Associations and Epidemiology #Genomics and Chromatin Dynamics #Genomics and Rare Diseases
paper · pdf · doi:10.1038/ng.2653
openalex publication_date 2013/05/29 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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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