The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine

Evaluation of how genetic mutations or variability can directly affect phenotypic outcomes, the development of disease, or determination of a tailored treatment protocol is fundamental to advancing personalized medicine. To understand how a genotype affects gene expression and specific phenotypic tr...

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Main Authors: Judy C. Keen, Helen M. Moore
Format: Article
Language:English
Published: MDPI AG 2015-02-01
Series:Journal of Personalized Medicine
Subjects:
Online Access:http://www.mdpi.com/2075-4426/5/1/22
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author Judy C. Keen
Helen M. Moore
author_facet Judy C. Keen
Helen M. Moore
author_sort Judy C. Keen
collection DOAJ
description Evaluation of how genetic mutations or variability can directly affect phenotypic outcomes, the development of disease, or determination of a tailored treatment protocol is fundamental to advancing personalized medicine. To understand how a genotype affects gene expression and specific phenotypic traits, as well as the correlative and causative associations between such, the Genotype-Tissue Expression (GTEx) Project was initiated The GTEx collection of biospecimens and associated clinical data links extensive clinical data with genotype and gene expression data to provide a wealth of data and resources to study the underlying genetics of normal physiology. These data will help inform personalized medicine through the identification of normal variation that does not contribute to disease. Additionally, these data can lead to insights into how gene variation affects pharmacodynamics and individualized responses to therapy.
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spelling doaj.art-2ff32a0179ce4ed19c92f3c665a5af752023-09-03T00:25:26ZengMDPI AGJournal of Personalized Medicine2075-44262015-02-0151222910.3390/jpm5010022jpm5010022The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized MedicineJudy C. Keen0Helen M. Moore1Biorepositories and Biospecimen Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USABiorepositories and Biospecimen Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USAEvaluation of how genetic mutations or variability can directly affect phenotypic outcomes, the development of disease, or determination of a tailored treatment protocol is fundamental to advancing personalized medicine. To understand how a genotype affects gene expression and specific phenotypic traits, as well as the correlative and causative associations between such, the Genotype-Tissue Expression (GTEx) Project was initiated The GTEx collection of biospecimens and associated clinical data links extensive clinical data with genotype and gene expression data to provide a wealth of data and resources to study the underlying genetics of normal physiology. These data will help inform personalized medicine through the identification of normal variation that does not contribute to disease. Additionally, these data can lead to insights into how gene variation affects pharmacodynamics and individualized responses to therapy.http://www.mdpi.com/2075-4426/5/1/22biobankingbiorepositorytissue biospecimengene variationgenotypeGenotype-Tissue Expression
spellingShingle Judy C. Keen
Helen M. Moore
The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
Journal of Personalized Medicine
biobanking
biorepository
tissue biospecimen
gene variation
genotype
Genotype-Tissue Expression
title The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
title_full The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
title_fullStr The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
title_full_unstemmed The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
title_short The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
title_sort genotype tissue expression gtex project linking clinical data with molecular analysis to advance personalized medicine
topic biobanking
biorepository
tissue biospecimen
gene variation
genotype
Genotype-Tissue Expression
url http://www.mdpi.com/2075-4426/5/1/22
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