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

@article{Ardlie2015TheGE,
  title={The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans},
  author={Kristin G. Ardlie and David S. Deluca and Ayellet V Segr{\`e} and Timothy John Sullivan and Taylor R. Young and Ellen T. Gelfand and Casandra A. Trowbridge and Julian B. Maller and Taru Tukiainen and Monkol Lek and Lucas D. Ward and Pouya Kheradpour and Benjamin Iriarte and Yan Meng and Clare Palmer and T{\~o}nu Esko and Wendy Winckler and Joel Hirschhorn and Manolis Kellis and Daniel G. MacArthur and Gad Getz and Andrey A. Shabalin and Gen Li and Yi Zhou and Andrew B. Nobel and Ivan Rusyn and Fred A. Wright and Tuuli Lappalainen and Pedro Gabriel Ferreira and Halit Ongen and Manuel A. Rivas and Alexis Battle and Sara Mostafavi and Jean Monlong and Michael Sammeth and Marta Mele and Ferran Reverter and Jakob M. Goldmann and Daphne Koller and Roderic Guig{\'o} and Mark I. McCarthy and Emmanouil T. Dermitzakis and Eric R. Gamazon and Hae Kyung Im and Anuar Konkashbaev and Dan L. Nicolae and Nancy J. Cox and Timoth{\'e}e Flutre and Xiaoquan Wen and Matthew Stephens and Jonathan K. Pritchard and Zhidong Tu and Bin Zhang and Tao Huang and Quan Long and Luan Lin and Jialiang Yang and Jun Zhu and Jun Liu and Amanda Brown and Bernadette Mestichelli and Denee Tidwell and Edmund T. T. Lo and Michael F Salvatore and Saboor Shad and Jeffrey Alexander Thomas and John T. Lonsdale and Michael T. Moser and Bryan M. Gillard and Ellen Karasik and Kimberly Ramsey and Christopher Changwon Choi and Barbara Ann Foster and John Syron and Johnell Fleming and Harold Magazine and Rick D. Hasz and Gary D. Walters and Jason P. Bridge and Mark Miklos and Susan Laura Sullivan and L. Kirk Barker and Heather M. Traino and Maghboeba Mosavel and Laura A. Siminoff and Dana R. Valley and Daniel Rohrer and Scott Jewell and Philip A. Branton and Leslie H. Sobin and Mary E. Barcus and Liqun Qi and Jeffrey Mclean and Pushpa Hariharan and Ki Sung Um and Shenpei Wu and David H. Tabor and Charles E. Shive and Anna Marie Smith and Stephen A. Buia and Anita H. Undale and Karna L. Robinson and Nancy V. Roche and Kimberly M. Valentino and Angela Britton and Robin B. Burges and Debra Bradbury and Kenneth W. Hambright and John Seleski and Greg E. Korzeniewski and Kenyon Erickson and Yvonne Marcus and Jorge Angel Diaz Tejada and Mehran Taherian and Chunrong Lu and Margaret J. Basile and Deborah Carmen Mash and Simona Volpi and Jeffery P. Struewing and G. Franklin. Temple and Joy T. Boyer and Deborah Elise Colantuoni and Roger G. Little and Susan E Koester and Latarsha J. Carithers and Helen M Moore and Ping Guan and Carolyn C. Compton and Sherilyn J. Sawyer and Joanne P. Demchok and Jimmie B. Vaught and Chana A. Rabiner and Lockhart},
  journal={Science},
  year={2015},
  volume={348},
  pages={648-660}
}
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… CONTINUE READING
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