@article{a25ea44e500a406ebcab5176fd5e4438,
title = "The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans",
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.",
author = "{The GTEx Consortium} and Ardlie, {Kristin G.} and DeLuca, {David S.} and Segr{\`e}, {Ayellet V.} and Sullivan, {Timothy J.} and Young, {Taylor R.} and Gelfand, {Ellen T.} and Trowbridge, {Casandra A.} and Maller, {Julian B.} and Taru Tukiainen and Monkol Lek and Ward, {Lucas D.} and Pouya Kheradpour and Benjamin Iriarte and Yan Meng and Palmer, {Cameron D.} and T{\~o}nu Esko and Wendy Winckler and Hirschhorn, {Joel N.} and Manolis Kellis and MacArthur, {Daniel G.} and Gad Getz and Shabalin, {Andrey A.} and Gen Li and Zhou, {Yi Hui} and Nobel, {Andrew B.} and Ivan Rusyn and Wright, {Fred A.} and Tuuli Lappalainen and Ferreira, {Pedro G.} and Halit Ongen and Rivas, {Manuel A.} and Alexis Battle and Sara Mostafavi and Jean Monlong and Michael Sammeth and Marta Mel{\'e} and Ferran Reverter and Goldmann, {Jakob M.} and Daphne Koller and Roderic Guig{\'o} and McCarthy, {Mark I.} and Dermitzakis, {Emmanouil T.} and Gamazon, {Eric R.} and Im, {Hae Kyung} and Anuar Konkashbaev and Nicolae, {Dan L.} and Cox, {Nancy J.} and Timoth{\'e}e Flutre and Xiaoquan Wen and Siminoff, {Laura A.}",
note = "Publisher Copyright: {\textcopyright} 2015, American Association for the Advancement of Science. All rights reserved.",
year = "2015",
month = may,
day = "8",
doi = "10.1126/science.1262110",
language = "English",
volume = "348",
pages = "648--660",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "6235",
}
