The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Authors:   The GTEx Consortium, Ardlie Kristin G. , Deluca David S. , Segrè Ayellet V. , Sullivan Timothy J. , Young Taylor R. , Gelfand Ellen T. , Trowbridge Casandra A. , Maller Julian B. , Tukiainen Taru , Lek Monkol , Ward Lucas D. , Kheradpour Pouya , Iriarte Benjamin , Meng Yan , Palmer Cameron D. , Esko Tõnu , Winckler Wendy , Hirschhorn Joel N. , Kellis Manolis , MacArthur Daniel G. , Getz Gad , Shabalin Andrey A. , Li Gen , Zhou Yi-Hui , Nobel Andrew B. , Rusyn Ivan , Wright Fred A. , Lappalainen Tuuli , Ferreira Pedro G. , Ongen Halit , Rivas Manuel A. , Battle Alexis , Mostafavi Sara , Monlong Jean , Sammeth Michael , Mele Marta , Reverter Ferran , Goldmann Jakob M. , Koller Daphne , Guigó Roderic , McCarthy Mark I. , Dermitzakis Emmanouil T. , Gamazon Eric R. , Im Hae Kyung , Konkashbaev Anuar , Nicolae Dan L. , Cox Nancy J. , Flutre Timothée , Wen Xiaoquan , Stephens Matthew , Pritchard Jonathan K. , Tu Zhidong , Zhang Bin , Huang Tao , Long Quan , Lin Luan , Yang Jialiang , Zhu Jun , Liu Jun , Brown Amanda , Mestichelli Bernadette , Tidwell Denee , Lo Edmund , Salvatore Mike , Shad Saboor , Thomas Jeffrey A. , Lonsdale John T. , Moser Michael T. , Gillard Bryan M. , Karasik Ellen , Ramsey Kimberly , Choi Christopher , Foster Barbara A. , Syron John , Fleming Johnell , Magazine Harold , Hasz Rick , Walters Gary D. , Bridge Jason P. , Miklos Mark , Sullivan Susan , Barker Laura K. , Traino Heather M. , Mosavel Maghboeba , Siminoff Laura A. , Valley Dana R. , Rohrer Daniel C. , Jewell Scott D. , Branton Philip A. , Sobin Leslie H. , Barcus Mary , Qi Liqun , McLean Jeffrey , Hariharan Pushpa , Um Ki Sung , Wu Shenpei , Tabor David , Shive Charles , Smith Anna M. , Buia Stephen A. , Undale Anita H. , Robinson Karna L. , Roche Nancy , Valentino Kimberly M. , Britton Angela , Burges Robin , Bradbury Debra , Hambright Kenneth W. , Seleski John , Korzeniewski Greg E. , Erickson Kenyon , Marcus Yvonne , Tejada Jorge , Taherian Mehran , Lu Chunrong , Basile Margaret , Mash Deborah C. , Volpi Simona , Struewing Jeffery P. , Temple Gary F. , Boyer Joy , Colantuoni Deborah , Little Roger , Koester Susan , Carithers Latarsha J. , Moore Helen M. , Guan Ping , Compton Carolyn , Sawyer Sherilyn J. , Demchok Joanne P. , Vaught Jimmie B. , Rabiner Chana A. , Lockhart Nicole C. , Ardlie Kristin G. , Getz Gad , Wright Fred A. , Kellis Manolis , Volpi Simona , Dermitzakis Emmanouil T. 
Published: May 2015

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. Meléet al.measured how transcription varies among tissues, and Rivaset al.looked at how truncated protein variants affect expression across tissues.

Science, this issue p.648, p.660, p.666; see also p.640