Produção Nacional
Revisado por pares
Effect of predicted protein-truncating genetic variants on the human transcriptome
2015; American Association for the Advancement of Science; Volume: 348; Issue: 6235 Linguagem: Inglês
10.1126/science.1261877
ISSN1095-9203
AutoresManuel A. Rivas, Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski, Julian Maller, Kimberly R. Kukurba, David S. DeLuca, Menachem Fromer, Pedro G. Ferreira, Kevin S. Smith, Rui Zhang, Fengmei Zhao, Eric Banks, Ryan Poplin, Douglas M. Ruderfer, Shaun Purcell, Taru Tukiainen, Eric Vallabh Minikel, Peter D. Stenson, D.N. Cooper, Katharine H. Huang, Timothy J. Sullivan, Jared L. Nedzel, Carlos D. Bustamante, Jin Billy Li, Mark J. Daly, Roderic Guigó, Peter Donnelly, Kristin Ardlie, Michael Sammeth, Emmanouil T. Dermitzakis, Mark I. McCarthy, Stephen B. Montgomery, Tuuli Lappalainen, Daniel G. MacArthur, Ayellet V. Segrè, Taylor Young, Ellen Gelfand, Casandra A. Trowbridge, Lucas D. Ward, Pouya Kheradpour, Benjamin Iriarte, Yan Meng, Cameron D. Palmer, Tõnu Esko, Wendy Winckler, Joel N. Hirschhorn, Manolis Kellis, Gad Getz, Andrey A. Shablin, Gen Li, Yi‐Hui Zhou, Andrew B. Nobel, Ivan Rusyn, Fred A. Wright, Alexis Battle, Sara Mostafavi, Marta Melé, Ferrán Reverter, Jakob M. Goldmann, Daphne Koller, Eric R. Gamazon, Hae Kyung Im, Anuar Konkashbaev, Dan L. Nicolae, Nancy J. Cox, Timothe Flutre, Xiaoquan Wen, Matthew Stephens, Jonathan K. Pritchard, Zhidong Tu, Bin Zhang, Tao Huang, Quan Long, Luan Lin, Jialiang Yang, Jun Zhu, Jun S. Liu, Amanda Brown, Bernadette Mestichelli, Denee Tidwell, Edmund Lo, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, John T. Lonsdale, Roswell Christopher Choi, Ellen Karasik, Kimberly Ramsey, Michael T. Moser, Barbara A. Foster, Bryan M. Gillard, John Syron, Johnelle Fleming, Harold I. Magazine, Rick Hasz, Gary Walters, Jason Bridge, Mark Miklos, Susan Sullivan, Laura K. Barker, Heather M. Traino, Magboeba Mosavel, Laura A. Siminoff, Dana R. Valley, Daniel C. Rohrer, Scott Jewel, Philip A. Branton, Leslie H. Sobin, Mary E. Barcus, Liqun Qi, Pushpa Hariharan, Shenpei Wu, David E. Tabor, Charles Shive, Anna M. 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, Barnaby E. Robles, Margaret J. Basile, Deborah C. Mash, Simona Volpi, Jeffery P. Struewing, Gary F. Temple, Joy T Boyer, Deborah Colantuoni, A. Roger Little, Susan E. Koester, Latarsha J. Carithers, Helen M. Moore, Ping Guan, Carolyn C. Compton, Sherilyn J. Sawyer, Joanne P. Demchok, Jimmie B. Vaught, Chana A. Rabiner, Nicole C. Lockhart, Marc R. Friedländer, Peter A.C. ‘t Hoen, Jean Monlong, Mar Gonzàlez-Porta, Natalja Kurbatova, Thasso Griebel, Matthias Barann, Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Carlsson Almlöf, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Esther Lizano, Henk P.J. Buermans, Ismaël Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltrán, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Paul Flicek, Tim M. Strom, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Ãngel Carracedo, Stylianos E. Antonarakis, Robert Häsler, Ann‐Christine Syvänen, Gert‐Jan B. van Ommen, Alvis Brāzma, Thomas Meitinger, Philip Rosenstiel, Marta Gut, Xavier Estivill,
Tópico(s)RNA modifications and cancer
ResumoExpression, 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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