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
Bibliography
Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., Ferreira, P. G., Smith, K. S., Zhang, R., Zhao, F., Banks, E., Poplin, R., Ruderfer, D. M., Purcell, S. M., Tukiainen, T., ⦠Estivill, X. (2015). Effect of predicted protein-truncating genetic variants on the human transcriptome. Science, 348(6235), 666â669.
Authors
200
- Manuel A. Rivas (first)
- Matti Pirinen (additional)
- Donald F. Conrad (additional)
- Monkol Lek (additional)
- Emily K. Tsang (additional)
- Konrad J. Karczewski (additional)
- Julian B. Maller (additional)
- Kimberly R. Kukurba (additional)
- David S. DeLuca (additional)
- Menachem Fromer (additional)
- Pedro G. Ferreira (additional)
- Kevin S. Smith (additional)
- Rui Zhang (additional)
- Fengmei Zhao (additional)
- Eric Banks (additional)
- Ryan Poplin (additional)
- Douglas M. Ruderfer (additional)
- Shaun M. Purcell (additional)
- Taru Tukiainen (additional)
- Eric V. Minikel (additional)
- Peter D. Stenson (additional)
- David N. Cooper (additional)
- Katharine H. Huang (additional)
- Timothy J. Sullivan (additional)
- Jared Nedzel (additional)
- (additional)
- (additional)
- Carlos D. Bustamante (additional)
- Jin Billy Li (additional)
- Mark J. Daly (additional)
- Roderic Guigo (additional)
- Peter Donnelly (additional)
- Kristin Ardlie (additional)
- Michael Sammeth (additional)
- Emmanouil T. Dermitzakis (additional)
- Mark I. McCarthy (additional)
- Stephen B. Montgomery (additional)
- Tuuli Lappalainen (additional)
- Daniel G. MacArthur (additional)
- Ayellet V. Segre (additional)
- Taylor R. Young (additional)
- Ellen T. Gelfand (additional)
- Casandra A. Trowbridge (additional)
- Lucas D. Ward (additional)
- Pouya Kheradpour (additional)
- Benjamin Iriarte (additional)
- Yan Meng (additional)
- Cameron D. Palmer (additional)
- Tonu Esko (additional)
- Wendy Winckler (additional)
- Joel Hirschhorn (additional)
- Manolis Kellis (additional)
- Gad Getz (additional)
- Andrey A. Shablin (additional)
- Gen Li (additional)
- Yi-Hui Zhou (additional)
- Andrew B. Nobel (additional)
- Ivan Rusyn (additional)
- Fred A. Wright (additional)
- Alexis Battle (additional)
- Sara Mostafavi (additional)
- Marta Mele (additional)
- Ferran Reverter (additional)
- Jakob Goldmann (additional)
- Daphne Koller (additional)
- Eric R. Gamazon (additional)
- Hae Kyung Im (additional)
- Anuar Konkashbaev (additional)
- Dan L. Nicolae (additional)
- Nancy J. Cox (additional)
- Timothe Flutre (additional)
- Xiaoquan Wen (additional)
- Matthew Stephens (additional)
- Jonathan K. Pritchard (additional)
- Zhidong Tu (additional)
- Bin Zhang (additional)
- Tao Huang (additional)
- Quan Long (additional)
- Luan Lin (additional)
- Jialiang Yang (additional)
- Jun Zhu (additional)
- Jun Liu (additional)
- Amanda Brown (additional)
- Bernadette Mestichelli (additional)
- Denee Tidwell (additional)
- Edmund Lo (additional)
- Mike Salvatore (additional)
- Saboor Shad (additional)
- Jeffrey A. Thomas (additional)
- John T. Lonsdale (additional)
- Roswell Christopher Choi (additional)
- Ellen Karasik (additional)
- Kimberly Ramsey (additional)
- Michael T. Moser (additional)
- Barbara A. Foster (additional)
- Bryan M. Gillard (additional)
- John Syron (additional)
- Johnelle Fleming (additional)
- Harold Magazine (additional)
- Rick Hasz (additional)
- Gary D. Walters (additional)
- Jason P. Bridge (additional)
- Mark Miklos (additional)
- Susan Sullivan (additional)
- Laura K. Barker (additional)
- Heather Traino (additional)
- Magboeba Mosavel (additional)
- Laura A. Siminoff (additional)
- Dana R. Valley (additional)
- Daniel C. Rohrer (additional)
- Scott Jewel (additional)
- Philip Branton (additional)
- Leslie H. Sobin (additional)
- Mary Barcus (additional)
- Liqun Qi (additional)
- Pushpa Hariharan (additional)
- Shenpei Wu (additional)
- David Tabor (additional)
- Charles Shive (additional)
- Anna M. Smith (additional)
- Stephen A. Buia (additional)
- Anita H. Undale (additional)
- Karna L. Robinson (additional)
- Nancy Roche (additional)
- Kimberly M. Valentino (additional)
- Angela Britton (additional)
- Robin Burges (additional)
- Debra Bradbury (additional)
- Kenneth W. Hambright (additional)
- John Seleski (additional)
- Greg E. Korzeniewski (additional)
- Kenyon Erickson (additional)
- Yvonne Marcus (additional)
- Jorge Tejada (additional)
- Mehran Taherian (additional)
- Chunrong Lu (additional)
- Barnaby E. Robles (additional)
- Margaret Basile (additional)
- Deborah C. Mash (additional)
- Simona Volpi (additional)
- Jeffery P. Struewing (additional)
- Gary F. Temple (additional)
- Joy Boyer (additional)
- Deborah Colantuoni (additional)
- Roger Little (additional)
- Susan Koester (additional)
- Latarsha J. Carithers (additional)
- Helen M. Moore (additional)
- Ping Guan (additional)
- Carolyn Compton (additional)
- Sherilyn J. Sawyer (additional)
- Joanne P. Demchok (additional)
- Jimmie B. Vaught (additional)
- Chana A. Rabiner (additional)
- Nicole C. Lockhart (additional)
- Marc R. Friedlander (additional)
- Peter A. C. ’t Hoen (additional)
- Jean Monlong (additional)
- Mar Gonzàlez-Porta (additional)
- Natalja Kurbatova (additional)
- Thasso Griebel (additional)
- Matthias Barann (additional)
- Thomas Wieland (additional)
- Liliana Greger (additional)
- Maarten van Iterson (additional)
- Jonas Almlof (additional)
- Paolo Ribeca (additional)
- Irina Pulyakhina (additional)
- Daniela Esser (additional)
- Thomas Giger (additional)
- Andrew Tikhonov (additional)
- Marc Sultan (additional)
- Gabrielle Bertier (additional)
- Esther Lizano (additional)
- Henk P. J. Buermans (additional)
- Ismael Padioleau (additional)
- Thomas Schwarzmayr (additional)
- Olof Karlberg (additional)
- Halit Ongen (additional)
- Helena Kilpinen (additional)
- Sergi Beltran (additional)
- Marta Gut (additional)
- Katja Kahlem (additional)
- Vyacheslav Amstislavskiy (additional)
- Oliver Stegle (additional)
- Paul Flicek (additional)
- Tim M. Strom (additional)
- Hans Lehrach (additional)
- Stefan Schreiber (additional)
- Ralf Sudbrak (additional)
- Angel Carracedo (additional)
- Stylianos E. Antonarakis (additional)
- Robert Hasler (additional)
- Ann-Christine Syvanen (additional)
- Gert-Jan van Ommen (additional)
- Alvis Brazma (additional)
- Thomas Meitinger (additional)
- Philip Rosenstiel (additional)
- Ivo G. Gut (additional)
- Xavier Estivill (additional)
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Dates
Type | When |
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Created | 10 years, 3 months ago (May 7, 2015, 2:11 p.m.) |
Deposited | 1 year, 7 months ago (Jan. 10, 2024, 4:14 p.m.) |
Indexed | 19 hours, 52 minutes ago (Sept. 4, 2025, 9:43 a.m.) |
Issued | 10 years, 3 months ago (May 8, 2015) |
Published | 10 years, 3 months ago (May 8, 2015) |
Published Print | 10 years, 3 months ago (May 8, 2015) |
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@article{Rivas_2015, title={Effect of predicted protein-truncating genetic variants on the human transcriptome}, volume={348}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.1261877}, DOI={10.1126/science.1261877}, number={6235}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Rivas, Manuel A. and Pirinen, Matti and Conrad, Donald F. and Lek, Monkol and Tsang, Emily K. and Karczewski, Konrad J. and Maller, Julian B. and Kukurba, Kimberly R. and DeLuca, David S. and Fromer, Menachem and Ferreira, Pedro G. and Smith, Kevin S. and Zhang, Rui and Zhao, Fengmei and Banks, Eric and Poplin, Ryan and Ruderfer, Douglas M. and Purcell, Shaun M. and Tukiainen, Taru and Minikel, Eric V. and Stenson, Peter D. and Cooper, David N. and Huang, Katharine H. and Sullivan, Timothy J. and Nedzel, Jared and Bustamante, Carlos D. and Li, Jin Billy and Daly, Mark J. and Guigo, Roderic and Donnelly, Peter and Ardlie, Kristin and Sammeth, Michael and Dermitzakis, Emmanouil T. and McCarthy, Mark I. and Montgomery, Stephen B. and Lappalainen, Tuuli and MacArthur, Daniel G. and Segre, Ayellet V. and Young, Taylor R. and Gelfand, Ellen T. and Trowbridge, Casandra A. and Ward, Lucas D. and Kheradpour, Pouya and Iriarte, Benjamin and Meng, Yan and Palmer, Cameron D. and Esko, Tonu and Winckler, Wendy and Hirschhorn, Joel and Kellis, Manolis and Getz, Gad and Shablin, Andrey A. and Li, Gen and Zhou, Yi-Hui and Nobel, Andrew B. and Rusyn, Ivan and Wright, Fred A. and Battle, Alexis and Mostafavi, Sara and Mele, Marta and Reverter, Ferran and Goldmann, Jakob and Koller, Daphne and Gamazon, Eric R. and Im, Hae Kyung and Konkashbaev, Anuar and Nicolae, Dan L. and Cox, Nancy J. and Flutre, Timothe and Wen, Xiaoquan and Stephens, Matthew and Pritchard, Jonathan K. and Tu, Zhidong and Zhang, Bin and Huang, Tao and Long, Quan and Lin, Luan and Yang, Jialiang and Zhu, Jun and Liu, Jun and Brown, Amanda and Mestichelli, Bernadette and Tidwell, Denee and Lo, Edmund and Salvatore, Mike and Shad, Saboor and Thomas, Jeffrey A. and Lonsdale, John T. and Choi, Roswell Christopher and Karasik, Ellen and Ramsey, Kimberly and Moser, Michael T. and Foster, Barbara A. and Gillard, Bryan M. and Syron, John and Fleming, Johnelle and Magazine, Harold and Hasz, Rick and Walters, Gary D. and Bridge, Jason P. and Miklos, Mark and Sullivan, Susan and Barker, Laura K. and Traino, Heather and Mosavel, Magboeba and Siminoff, Laura A. and Valley, Dana R. and Rohrer, Daniel C. and Jewel, Scott and Branton, Philip and Sobin, Leslie H. and Barcus, Mary and Qi, Liqun and Hariharan, Pushpa and Wu, Shenpei and Tabor, David and Shive, Charles and Smith, Anna M. and Buia, Stephen A. and Undale, Anita H. and Robinson, Karna L. and Roche, Nancy and Valentino, Kimberly M. and Britton, Angela and Burges, Robin and Bradbury, Debra and Hambright, Kenneth W. and Seleski, John and Korzeniewski, Greg E. and Erickson, Kenyon and Marcus, Yvonne and Tejada, Jorge and Taherian, Mehran and Lu, Chunrong and Robles, Barnaby E. and Basile, Margaret and Mash, Deborah C. and Volpi, Simona and Struewing, Jeffery P. and Temple, Gary F. and Boyer, Joy and Colantuoni, Deborah and Little, Roger and Koester, Susan and Carithers, Latarsha J. and Moore, Helen M. and Guan, Ping and Compton, Carolyn and Sawyer, Sherilyn J. and Demchok, Joanne P. and Vaught, Jimmie B. and Rabiner, Chana A. and Lockhart, Nicole C. and Friedlander, Marc R. and ’t Hoen, Peter A. C. and Monlong, Jean and Gonzàlez-Porta, Mar and Kurbatova, Natalja and Griebel, Thasso and Barann, Matthias and Wieland, Thomas and Greger, Liliana and van Iterson, Maarten and Almlof, Jonas and Ribeca, Paolo and Pulyakhina, Irina and Esser, Daniela and Giger, Thomas and Tikhonov, Andrew and Sultan, Marc and Bertier, Gabrielle and Lizano, Esther and Buermans, Henk P. J. and Padioleau, Ismael and Schwarzmayr, Thomas and Karlberg, Olof and Ongen, Halit and Kilpinen, Helena and Beltran, Sergi and Gut, Marta and Kahlem, Katja and Amstislavskiy, Vyacheslav and Stegle, Oliver and Flicek, Paul and Strom, Tim M. and Lehrach, Hans and Schreiber, Stefan and Sudbrak, Ralf and Carracedo, Angel and Antonarakis, Stylianos E. and Hasler, Robert and Syvanen, Ann-Christine and van Ommen, Gert-Jan and Brazma, Alvis and Meitinger, Thomas and Rosenstiel, Philip and Gut, Ivo G. and Estivill, Xavier}, year={2015}, month=may, pages={666–669} }