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

Ardlie, Kristin G.; DeLuca, David S.; Segrè, Ayellet V.; Sullivan, Timothy J.; Young, Taylor; Gelfand, Ellen; Trowbridge, Casandra A.; Maller, Julian; Tukiainen, Taru; Lek, Monkol; Ward, Lucas D.; Kheradpour, Pouya; Iriarte, Benjamin; Meng, Yan; Palmer, Cameron D.; Esko, Tõnu; Winckler, Wendy; Hirschhorn, Joel N.; Kellis, Manolis; MacArthur, Daniel G.; Getz, Gad; Shabalin, Andrey A.; Li, Gen; Zhou, Yi‐Hui; Nobel, Andrew B.; Rusyn, Ivan; Wright, Fred A.; Lappalainen, Tuuli; Ferreira, Pedro G.; Ongen, Halit; Rivas, Manuel A.; Battle, Alexis; Mostafavi, Sara; Monlong, Jean; Sammeth, Michael; Melé, Marta; Reverter, Ferrán; Goldmann, Jakob M.; Koller, Daphne; Guigó, Roderic; McCarthy, Mark I.; Dermitzakis, Emmanouil T.; Gamazon, Eric R.; Im, Hae Kyung; Konkashbaev, Anuar; Nicolae, Dan L.; Cox, Nancy J.; Flutre, Timothée; 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.; Moser, Michael T.; Gillard, Bryan M.; Karasik, Ellen; Ramsey, Kimberly; Choi, Christopher; Foster, Barbara A.; Syron, John; Fleming, Johnell; Magazine, Harold I.; Hasz, Rick; Walters, Gary; Bridge, Jason; Miklos, Mark; Sullivan, Susan; Barker, Laura K.; Traino, Heather M.; Mosavel, Maghboeba; Siminoff, Laura A.; Valley, Dana R.; Rohrer, Daniel C.; Jewell, Scott D.; Branton, Philip A.; Sobin, Leslie H.; Barcus, Mary E.; Qi, Liqun; McLean, Jeffrey A.; Hariharan, Pushpa; Um, Ki Sung; Wu, Shenpei; Tabor, David E.; Shive, Charles; Smith, Anna M.; Buia, Stephen A.; Undale, Anita H.; Robinson, Karna; 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; Basile, Margaret J.; Mash, Deborah C.; Volpi, Simona; Struewing, Jeffery P.; Temple, Gary F.; Boyer, Joy T; Colantuoni, Deborah; Little, Roger; Koester, Susan E.; Carithers, Latarsha J.; Moore, Helen M.; Guan, Ping; Compton, Carolyn C.; Sawyer, Sherilyn J.; Demchok, Joanne P.; Vaught, Jimmie B.; Rabiner, Chana A.; Lockhart, Nicole C.; Ardlie, Kristin G.; Getz, Gad; Wright, Fred A.; Kellis, Manolis; Volpi, Simona; Dermitzakis, Emmanouil T.

doi:10.1126/science.1262110

articleScienceMay 7, 2015GREEN OA

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

KGKristin G. Ardlie DSDavid S. DeLuca AVAyellet V. Segrè TJTimothy J. Sullivan TYTaylor Young

Agropolis International · Amélioration Génétique et Adaptation des Plantes méditerranéennes et tropicales

PubMed

Indexed incrossrefpubmed

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…

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Topics & keywords

Topics

Keywords

Biology
Genetic variation
Gene expression
Genotype
Gene
Expression quantitative trait loci
Genetics
Regulation of gene expression

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