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

Kristin G. Ardlie, David S. DeLuca, Ayellet V. Segrè, Timothy J. Sullivan, Taylor R. Young, Ellen T. Gelfand, Casandra A. Trowbridge, Julian B. Maller, Taru Tukiainen, Monkol Lek, Lucas D. Ward, Pouya Kheradpour, Benjamin Iriarte, Yan Meng, Cameron D. Palmer, Tõnu Esko, Wendy Winckler, Joel N. Hirschhorn, Manolis Kellis, Daniel G. MacArthurGad Getz, Andrey A. Shabalin, Gen Li, Yi Hui 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, Ferran 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, Luan Lin, Jialiang Yang, Jun Zhu, Jun Liu, Amanda Brown, Bernadette Mestichelli, Denee Tidwell, Edmund Lo, Michael 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 Magazine, Rick Hasz, Gary D. Walters, Jason P. Bridge, Mark Miklos, Susan Sullivan, Laura K. Barker, Heather M. Traino, Maghboeba Mosavel, Laura A. Siminoff, Dana R. Valley, Daniel C. Rohrer, Scott D. Jewell, Philip A. Branton, Leslie H. Sobin, Mary Barcus, Liqun Qi, Jeffrey McLean, Pushpa Hariharan, Ki Sung Um, Shenpei Wu, David Tabor, Charles Shive, Anna M. Smith, Stephen A. Buia, Anita H. Undale, Karna L. 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 Boyer, Deborah Colantuoni, Roger Little, Susan Koester, Latarsha J. Carithers, Helen M. Moore, Ping Guan, Carolyn Compton, Sherilyn J. Sawyer, Joanne P. Demchok, Jimmie B. Vaught, Chana A. Rabiner, [No Value] Lockhart

Research output: Contribution to journalArticle

Abstract

Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues.

Original languageEnglish (US)
Pages (from-to)648-660
Number of pages13
JournalScience
Volume348
Issue number6235
DOIs
StatePublished - May 8 2015
Externally publishedYes

ASJC Scopus subject areas

  • General

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    Ardlie, K. G., DeLuca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., Lek, M., Ward, L. D., Kheradpour, P., Iriarte, B., Meng, Y., Palmer, C. D., Esko, T., Winckler, W., Hirschhorn, J. N., Kellis, M., ... Lockhart, N. V. (2015). The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science, 348(6235), 648-660. https://doi.org/10.1126/science.1262110