The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie , David S. DeLuca , Ayellet V. Segrè , Kristin G. Ardlie , David S. DeLuca , Ayellet V. Segrè , Timothy J. Sullivan , Taylor Young , Ellen Gelfand , Casandra A. Trowbridge , Julian Maller , Taru Tukiainen , Monkol Lek , Lucas D. Ward , Pouya Kheradpour , Benjamin Iriarte , Yan Meng , Cameron D. Palmer , Tõnu Esko , Wendy Winckler , Joel N. Hirschhorn , Manolis Kellis , Daniel G. MacArthur , Gad Getz , Andrey A. Shabalin , Gen Li , Yi‐Hui Zhou , Andrew B. Nobel , Ivan Rusyn , Fred A. Wright , Tuuli Lappalainen , Pedro G. Ferreira , Halit Ongen , Manuel A. Rivas , Alexis Battle , Sara Mostafavi , Jean Monlong , Michael Sammeth , Marta Melé , Ferrán Reverter , Jakob M. Goldmann , Daphne Koller , Roderic Guigó , Mark I. McCarthy , Emmanouil T. Dermitzakis , Eric R. Gamazon , Hae Kyung Im , Anuar Konkashbaev , Dan L. Nicolae , Nancy J. Cox , Timothée Flutre , Xiaoquan Wen , Matthew Stephens , Jonathan K. Pritchard , Zhidong Tu , Bin Zhang , Tao Huang , Quan Long , Luan Lin , Jialiang Yang , Jun Zhu , Jun Liu , Amanda Brown , Bernadette Mestichelli , Denee Tidwell , Edmund Lo , Mike Salvatore , Saboor Shad , Jeffrey A. Thomas , John T. Lonsdale , Michael T. Moser , Bryan M. Gillard , Ellen Karasik , Kimberly Ramsey , Christopher Choi , Barbara A. Foster , John Syron , Johnell Fleming , Harold I. Magazine , Rick Hasz , Gary Walters , Jason Bridge , Mark Miklos , Susan Sullivan , Laura K. Barker , Heather M. Traino , Maghboeba Mosavel , Laura A. Siminoff , Dana R. Valley , Daniel C. Rohrer , Scott D. Jewell , Philip A. Branton , Leslie H. Sobin , Mary E. Barcus , Liqun Qi , Jeffrey A. McLean , Pushpa Hariharan , Ki Sung Um , Shenpei Wu , David E. Tabor , Charles Shive , Anna M. Smith , Stephen A. Buia
2015 Science 5,478 citations

Abstract

Expression, genetic variation, and tissues Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns. Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at how truncated protein variants affect expression across tissues. Science , this issue p. 648 , p. 660 , p. 666 ; see also p. 640

Keywords

BiologyGenetic variationGene expressionGenotypeGeneExpression quantitative trait lociGeneticsRegulation of gene expressionSingle-nucleotide polymorphism

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Year
2015
Type
article
Volume
348
Issue
6235
Pages
648-660
Citations
5478
Access
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Kristin G. Ardlie, David S. DeLuca, Ayellet V. Segrè et al. (2015). The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science , 348 (6235) , 648-660. https://doi.org/10.1126/science.1262110

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DOI
10.1126/science.1262110