The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine
Year: 2015
Type: article
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.
Source: Journal of Personalized Medicine
DOI: 10.3390/jpm5010022
Authors: Judy Keen, Helen Moore
Institutions: National Cancer Institute, National Institutes of Health
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,137
Awards: Using the Transcriptome for SNP and Gene Annotation, G386607036, G4715193760, Epistatic and Cross Tissue Analysis for Human Gene Expression Traits, G5888954722, Methods for high-resolution analysis of genetic effects on gene expression, FACILITATING GTEx, DISEASE, AND GxE ANALYSES VIA FAST EXPRESSION (e)QTL MAPPING, Statistical analysis of gene expression quantitative trait loci (eQTL), CNS Mechanisms in Cocaine-Related Sudden Death
OpenAlex ID: W1985752801