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The Genotype-Tissue Expression (GTEx) Project

Glossary of Terms

  • A biobank is a general term for a place that stores and preserves tissues samples and organs for use in biomedical research over a long period of time.

  • caHUB refers to the cancer HUman Biobank, a Biobank sponsored by the National Cancer Institute, part of the NIH, where GTEx and other tissue samples will be stored. (See: Cancer Human Biobank)

  • A database is a site for electronic storage of genetic and medical information. Only NIH-approved researchers will have access to genetic and clinical information from GTEx donors.

  • Genes are made up of DNA and contain all the information needed to build and operate a human body. Genes carry information that codes for features such as eye color and blood type, that are passed on to future ones children's. Genes also carry information that can lead to disease in people's bodies, in combination with factors in the environment, like diet and smoking.

  • Genetic variation means any changes in the spelling of genes among individuals; in some cases, these changes affect how the body functions but most do not have any observable effect.

  • Genome browsers are public, online resources that summarize and display genetic information in a visual way. The GTEx genome browsers, when operational, may include information that summarizes the data and results, such as average gene expression. Data from a single individual will never be disclosed on these public browsers.

  • A genotype is the unique collection of genes in an individual organism, similar to a fingerprint, that contribute to traits, or phenotypes.

  • GINA refers to the Genetic Information Non-discrimination Act, a federal law established in 2008 to protect citizens against unfair treatment because of their genetic information (See: Genetic Information Nondiscrimination Act (GINA) of 2008)

  • GWAS stands for Genome-Wide Association Studies. These are research studies of large groups of people that study differences in the way genes are spelled in people with certain diseases.

  • NIH is the National Institutes of Health, an agency in the U.S. Department of Health and Human Services whose mission is to employ science in the pursuit of knowledge to improve human health. It is the principal biomedical research agency of the federal government.

  • An organ is a collection of tissues joined in a structural unit to serve a common function, such as the heart, kidney, muscle, and liver.

  • A phenotype is an individual's observable traits, such as height, eye color, and blood type. The genetic contribution to the phenotype is called the genotype. Some traits are largely determined by the genotype, while other traits are largely determined by environmental factors.

  • Tissues refer to materials from the body such as blood, skin, hair, fat, or a small piece of an organ.

  • Additional genetic terms may be found here: Talking Glossary of Genetic Terms

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Last Reviewed: March 1, 2012