Effect of predicted protein-truncating genetic variants on the human transcriptome
Authors: Rivas Manuel A. , Pirinen Matti , Conrad Donald F. , Lek Monkol , Tsang Emily K. , Karczewski Konrad J. , Maller Julian B. , Kukurba Kimberly R. , DeLuca David S. , Fromer Menachem , Ferreira Pedro G. , Smith Kevin S. , Zhang Rui , Zhao Fengmei , Banks Eric , Poplin Ryan , Ruderfer Douglas M. , Purcell Shaun M. , Tukiainen Taru , Minikel Eric V. , Stenson Peter D. , Cooper David N. , Huang Katharine H. , Sullivan Timothy J. , Nedzel Jared ,   The GTEx Consortium,   The Geuvadis Consortium, Bustamante Carlos D. , Li Jin Billy , Daly Mark J. , Guigo Roderic , Donnelly Peter , Ardlie Kristin , Sammeth Michael , Dermitzakis Emmanouil T. , McCarthy Mark I. , Montgomery Stephen B. , Lappalainen Tuuli , MacArthur Daniel G. , Segre Ayellet V. , Young Taylor R. , Gelfand Ellen T. , Trowbridge Casandra A. , Ward Lucas D. , Kheradpour Pouya , Iriarte Benjamin , Meng Yan , Palmer Cameron D. , Esko Tonu , Winckler Wendy , Hirschhorn Joel , Kellis Manolis , Getz Gad , Shablin Andrey A. , Li Gen , Zhou Yi-Hui , Nobel Andrew B. , Rusyn Ivan , Wright Fred A. , Battle Alexis , Mostafavi Sara , Mele Marta , Reverter Ferran , Goldmann Jakob , Koller Daphne , Gamazon Eric R. , Im Hae Kyung , Konkashbaev Anuar , Nicolae Dan L. , Cox Nancy J. , Flutre Timothe , 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. , Choi Roswell Christopher , Karasik Ellen , Ramsey Kimberly , Moser Michael T. , Foster Barbara A. , Gillard Bryan M. , Syron John , Fleming Johnelle , Magazine Harold , Hasz Rick , Walters Gary D. , Bridge Jason P. , Miklos Mark , Sullivan Susan , Barker Laura K. , Traino Heather , Mosavel Magboeba , Siminoff Laura A. , Valley Dana R. , Rohrer Daniel C. , Jewel Scott , Branton Philip , Sobin Leslie H. , Barcus Mary , Qi Liqun , Hariharan Pushpa , 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 , Robles Barnaby E. , 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. , Friedlander Marc R. , ’t Hoen Peter A. C. , Monlong Jean , Gonzàlez-Porta Mar , Kurbatova Natalja , Griebel Thasso , Barann Matthias , Wieland Thomas , Greger Liliana , van Iterson Maarten , Almlof Jonas , Ribeca Paolo , Pulyakhina Irina , Esser Daniela , Giger Thomas , Tikhonov Andrew , Sultan Marc , Bertier Gabrielle , Lizano Esther , Buermans Henk P. J. , Padioleau Ismael , Schwarzmayr Thomas , Karlberg Olof , Ongen Halit , Kilpinen Helena , Beltran Sergi , Gut Marta , Kahlem Katja , Amstislavskiy Vyacheslav , Stegle Oliver , Flicek Paul , Strom Tim M. , Lehrach Hans , Schreiber Stefan , Sudbrak Ralf , Carracedo Angel , Antonarakis Stylianos E. , Hasler Robert , Syvanen Ann-Christine , van Ommen Gert-Jan , Brazma Alvis , Meitinger Thomas , Rosenstiel Philip , Gut Ivo G. , Estivill Xavier 
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. Melé
et al.
measured how transcription varies among tissues, and Rivas
et al.
looked at how truncated protein variants affect expression across tissues.

Science
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648
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, p.
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; see also p.
640