The Genotype-Tissue Expression (GTEx) project. Academic Article

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.

authors

• Rusyn, Ivan

published proceedings

• Nat Genet

altmetric score

• 129.648

author list (cited authors)

• GTEx Consortium.

citation count

• 5377

publication date

• June 2013

publisher

• Springer Nature  Publisher

published in

• Nature Genetics  Journal

keywords

• Consensus Development Conferences, Nih As Topic
• Gene Expression
• Gene Expression Profiling
• Genome-Wide Association Study
• Government Programs
• Humans
• Molecular Sequence Annotation
• Organ Specificity
• Quantitative Trait Loci
• Tissue Banks
• United States

PubMed Central ID

• 23715323

Digital Object Identifier (DOI)

• 10.1038/ng.2653

start page

• 580

end page

• 585

volume

• 45

issue

• 6

URL

• http://dx.doi.org/10.1038/ng.2653

user-defined tag

• 3 Good Health and Well-Being