@article{08f0bdf092824bb8b854d080b27bdb86,
title = "Genetic effects on gene expression across human tissues",
abstract = "Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.",
author = "{GTEx Consortium} and Fran{\c c}ois Aguet and Brown, {Andrew A.} and Castel, {Stephane E.} and Davis, {Joe R.} and Yuan He and Brian Jo and Pejman Mohammadi and Park, {Yo Son} and Princy Parsana and Segr{\`e}, {Ayellet V.} and Strober, {Benjamin J.} and Zachary Zappala and Cummings, {Beryl B.} and Gelfand, {Ellen T.} and Kane Hadley and Huang, {Katherine H.} and Monkol Lek and Xiao Li and Nedzel, {Jared L.} and Nguyen, {Duyen Y.} and Noble, {Michael S.} and Sullivan, {Timothy J.} and Taru Tukiainen and MacArthur, {Daniel G.} and Gad Getz and Anjene Addington and Ping Guan and Susan Koester and Little, {A. Roger} and Lockhart, {Nicole C.} and Moore, {Helen M.} and Abhi Rao and Struewing, {Jeffery P.} and Simona Volpi and Brigham, {Lori E.} and Richard Hasz and Marcus Hunter and Christopher Johns and Mark Johnson and Gene Kopen and Leinweber, {William F.} and Lonsdale, {John T.} and Alisa McDonald and Bernadette Mestichelli and Kevin Myer and Bryan Roe and Michael Salvatore and Ruth Barshir and Omer Basha and Esti Yeger-Lotem",
note = "Publisher Copyright: {\textcopyright} 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.",
year = "2017",
month = oct,
day = "11",
doi = "10.1038/nature24277",
language = "English",
volume = "550",
pages = "204--213",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7675",
}