[HTML][HTML] The genotype-tissue expression (GTEx) project

J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo… - Nature …, 2013 - nature.com
J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, G Walters, F Garcia
Nature genetics, 2013nature.com
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 …
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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