Dataset Information

Enhancing Research Through the Use of the Genotype-Tissue Expression (GTEx) Database.

ABSTRACT: Despite a growing interest in multi-omic research, individual investigators may struggle to collect large-scale omic data, particularly from human subjects. Publicly available datasets can help to address this problem, including those sponsored by the NIH Common Fund, such as the Genotype-Tissue Expression (GTEx) database. This database contains genotype and expression data obtained from 54 non-diseased tissues in human subjects. But these data are often underutilized, because users may find the browsing tools to be counterintuitive or have difficulty navigating the procedures to request controlled data access. Furthermore, there is limited knowledge of these resources among nurse scientists interested in incorporating such information into their programs of research. This article outlines the procedures for using the GTEx database. Next, we provide one exemplar of using this resource to enhance existing research by investigating expression of dopamine receptor type 2 (DRD2) across brain tissues in human subjects.

SUBMITTER: Stanfill AG

PROVIDER: S-EPMC8191158 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Lay Description The aim of the Genotype-Tissue Expression (GTEx) Project is to increase our understanding of how changes in our genes affect human health and disease with the ultimate goal of improving health care for future generations. GTEx will create a database that researchers can use to study how inherited changes in genes lead to common diseases. GTEx researchers are studying genes in different tissues obtained from many different people. The GTEx project also includes a study of the GTEx donor consent process - this study will help ensure that the consent process and other aspects of the project effectively address the concerns and expectations of participants in the study. GTEx is a pioneering project that uses state-of-the-art protocols for obtaining and storing a large range of organs and tissues, and for testing them in the lab. Until now, no project has analyzed genetic variation and expression in as many tissues from the same person in such a large population as planned for GTEx. Scientific Description Understanding the role of variation in the human genome is crucial to elucidating genetic contributions to human health and disease. Despite the results of genome-wide association studies (GWAS) documenting strong statistical associations between genetic variation and human traits, the functional role for most of these variants is largely unexplained. Nearly 90% of these GWAS-implicated sites lie outside of protein-coding sequences, suggesting that these variants might regulate gene expression. The goal of the Genotype-Tissue Expression (GTEx) project is to establish a resource database and tissue biobank in which to study the relationship between genetic variation and gene expression and other molecular phenotypes in reference/non-diseased tissues. The ultimate resource will include approximately 960 post-mortem donors with several dozen tissues from each, a resource large enough to study both cis- and trans- gene expression quantitative trait loci (eQTLs). Some tissue will also be banked for additional molecular analyses. To request biosamples, please see the <a href="http://www.gtexportal.org/home/samplesPage" target="_blank">Biobank page</a> for more information. GTEx was initially funded as a 2-year pilot project by the NIH Common Fund (CF) in 2010, and has been scaled up after demonstration of feasibility. The project will collect and analyze RNA levels in many different human tissues and each donor will be characterized for germline genetic variation through dense genotyping arrays and sequencing of either whole exomes or whole genomes. By treating RNA expression levels as quantitative traits, eQTLs will be identified as sites containing genetic variation that correlate with changes in RNA expression. Such eQTLs have been associated with 4%-12% of expressed human genes, and with common complex human diseases, including obesity, atherosclerosis, type 2 diabetes, Crohn's disease, and asthma. Additionally, few studies have examined the tissue specificity of eQTLs. A subset of banked tissue samples will also be analyzed for other molecular phenotypes, such as DNA methylation, DNaseI hypersensitivity sites, and proteomics. The GTEx project will thus serve as a resource database and tissue bank for many future studies, especially for understanding the functional basis of inherited susceptibility to disease. All GTEx releases since Version 5 follow the NIH Genomic Data Sharing (GDS) Policy whereby there are no restrictions on use or publication after release. Additional information about the GTEx Data Release and Publication policy can be found on the GTEx Data Portal at <a href="http://www.gtexportal.org" target="_blank">www.gtexportal.org</a>.

Project description:Lay Description The aim of the Genotype-Tissue Expression (GTEx) Project is to increase our understanding of how changes in our genes affect human health and disease with the ultimate goal of improving health care for future generations. It was launched in 2010 as a two-year pilot project supported by the Office of the Director, National Institutes of Health (NIH). GTEx will create a database that researchers can use to study how inherited changes in genes lead to common diseases. GTEx researchers are studying genes in different tissues obtained from many different people. The GTEx project also includes a study to explore the effectiveness of the GTEx donor consent process - this study will help ensure that the consent process and other aspects of the project effectively address the concerns and expectations of participants in the study. GTEx is a pioneering project that uses state-of-the-art protocols for obtaining and storing a large range of organs and tissues and for testing them in the lab. Until now, no project has analyzed genetic variation and expression in as many tissues in such a large population as planned for GTEx. Scientific Description Understanding the role of variation in the human genome is crucial to elucidating genetic contributions to human health and disease. Despite the results of genome-wide association studies (GWAS) documenting strong statistical associations between genetic variation and human traits, the functional role for most of these variants is largely unexplained. Nearly 90% of these GWAS-implicated sites lie outside of protein-coding sequences, suggesting that these variants might regulate gene expression. The goal of the Genotype-Tissue Expression (GTEx) project is to establish a resource database in which to study the relationship between genetic variation and gene expression in reference/non-diseased tissues. The ultimate resource would include up to 1,000 post-mortem donors with several dozen tissues from each, a resource large enough to study both cis- and trans- gene expression quantitative trait loci (eQTLs). Some tissue will also be banked for additional molecular analyses. GTEx was funded as a 2-year pilot project by the NIH Common Fund (CF), and will assess the feasibility of collecting high-quality RNA from multiple tissues from healthy donors. The project will collect and analyze RNA levels in 30 or more different human tissues from 160 postmortem donors and 5 tissues from a similar number of surgical controls. Each donor will be characterized for germline genetic variation through dense genotyping arrays. By treating RNA expression levels as quantitative traits, eQTLs will be identified as sites containing genetic variation that correlate with changes in RNA expression. Such eQTLs have been associated with 4%-12% of expressed human genes, and with common complex human diseases, including obesity, atherosclerosis, type 2 diabetes, Crohn's disease, and asthma. Additionally, few studies have examined the tissue specificity of eQTLs. The GTEx project will thus serve as a resource database and tissue bank for many future studies, especially for understanding the functional basis of inherited susceptibility to disease. It is anticipated that GTEx data will be made available through dbGaP on a periodic basis as it is generated.

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Enhancing Research Through the Use of the Genotype-Tissue Expression (GTEx) Database.

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