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

Kristin 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,M Kellis,Daniel G. MacArthur,Gad Getz,Andrey A. Shabalin,Gen Li,Yifeng 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,Lin Li,Jialiang Yang,Jun Zhu,Jun Li,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 Barker,Heather M. Traino,Maghboeba Mosavel,Laura A. Siminoff,Dana R. Valley,Daniel C. Rohrer,Scott 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 Smith,Stephen A. Buia,Anita H. Undale,Karna Robinson,Nancy Roche,Kimberly M. Valentino,Angela Britton,Robin Burges,Debra Bradbury,Kenneth W. Hambright,John Seleski,Greg E. Korzeniewski,Kenyon Erickson,Yvonne Marcus,Jorge Tejada,Mehran Taherian,Chunrong Lu,Margaret Basile,Deborah C. Mash,Simona Volpi,Jeffery P. Struewing,Gary F. Temple,Joy T Boyer,Deborah Colantuoni,Roger Little,Susan E. Koester,Latarsha J. Carithers,Helen M. Moore,Peng Guan,Carolyn C. Compton,Sherilyn Sawyer,Joanne P. Demchok,Jimmie B. Vaught,Chana A. Rabiner,Nicole C. Lockhart

Biology

Genetic variation

Gene

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. 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

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“The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans” is a paper by Kristin 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 M Kellis Daniel G. MacArthur Gad Getz Andrey A. Shabalin Gen Li Yifeng 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 Lin Li Jialiang Yang Jun Zhu Jun Li 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 Barker Heather M. Traino Maghboeba Mosavel Laura A. Siminoff Dana R. Valley Daniel C. Rohrer Scott 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 Smith Stephen A. Buia Anita H. Undale Karna Robinson Nancy Roche Kimberly M. Valentino Angela Britton Robin Burges Debra Bradbury Kenneth W. Hambright John Seleski Greg E. Korzeniewski Kenyon Erickson Yvonne Marcus Jorge Tejada Mehran Taherian Chunrong Lu Margaret Basile Deborah C. Mash Simona Volpi Jeffery P. Struewing Gary F. Temple Joy T Boyer Deborah Colantuoni Roger Little Susan E. Koester Latarsha J. Carithers Helen M. Moore Peng Guan Carolyn C. Compton Sherilyn Sawyer Joanne P. Demchok Jimmie B. Vaught Chana A. Rabiner Nicole C. Lockhart published in 2015. It has an Open Access status of “bronze”. You can read and download a PDF Full Text of this paper here.