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J. Pers. Med. 2015, 5(1), 22-29; doi:10.3390/jpm5010022

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

Biorepositories and Biospecimen Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USA
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Author to whom correspondence should be addressed.
Academic Editor: Lori A. Orlando
Received: 24 October 2014 / Revised: 31 December 2014 / Accepted: 28 January 2015 / Published: 5 February 2015
(This article belongs to the Special Issue Biobanking and EHR/EMR)
View Full-Text   |   Download PDF [361 KB, uploaded 5 February 2015]

Abstract

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. View Full-Text
Keywords: biobanking; biorepository; tissue biospecimen; gene variation; genotype; Genotype-Tissue Expression biobanking; biorepository; tissue biospecimen; gene variation; genotype; Genotype-Tissue Expression
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Keen, J.C.; Moore, H.M. The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine. J. Pers. Med. 2015, 5, 22-29.

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