Genetic effects on gene expression across human tissues
Creators: name: Haugen, Eric
name: He, Yuan
name: Chen, Lin S.
name: Dermitzakis, Emmanouil T.
name: Branton, Philip A.
name: Nobel, Andrew B.
name: Park, YoSon
name: McLean, Jeffrey A.
name: Neri, Fidencio J.
name: Tabor, David E.
name: Saha, Ashis
name: Sobin, Leslie
name: Doherty, Jennifer A.
name: Rosenbloom, Kate R.
name: Quan, Jie
name: Strober, Benjamin J.
name: Liu, Yaping
name: Valley, Dana
name: Basha, Omer
name: Barshir, Ruth
name: Trowbridge, Casandra A.
name: Segrè, Ayellet V.
name: Skol, Andrew
name: Karasik, Ellen
name: Bridge, Jason
name: Kent, W. James
name: Chiang, Colby
name: Damani, Farhan N.
name: Karczewski, Konrad J.
name: Barcus, Mary E.
name: Oliva, Meritxell
name: Papasaikas, Panagiotis
name: Nelson, Jemma
name: Linke, Caroline
name: Paten, Benedict
name: Gelfand, Ellen T.
name: Zhu, Jingchun
name: Wright, Fred A.
name: Smith, Kevin S.
name: Halow, Jessica
name: Kim-Hellmuth, Sarah
name: Salvatore, Michael
name: Hunter, Steven
name: Noble, Michael S.
name: Goldman, Mary
name: Nguyen, Duyen Y.
name: Singh, Shilpi
name: Rohrer, Daniel C.
name: Cox, Nancy J.
name: Hickey, Peter F.
name: Battle, Alexis
name: Claussnitzer, Melina
name: Molinie, Benoit
name: Aguet, François
name: Balliu, Brunilda
name: Thomas, Jeffrey A.
name: Hormozdiari, Farhad
name: Hou, Lei
name: Kaul, Rajinder
name: Peterson, Christine B.
name: Lin, Jessica
name: Barker, Laura K.
name: Brown, Christopher D.
name: Guan, Ping
name: Lee, Kristen
name: Gloudemans, Michael J.
name: Ripke, Stephan
name: Moser, Michael T.
name: Muñoz-Aguirre, Manuel
name: Haeussler, Maximilian
name: Vatanian, Negin
name: Gewirtz, Ariel D.H.
name: Castel, Stephane E.
name: Monlong, Jean
name: Scott, Alexandra J.
name: Stamatoyannopoulos, John
name: Ruffier, Magali
name: Zappala, Zachary
name: Li, Xiao
name: Ferreira, Pedro G.
name: Nierras, Concepcion R.
name: Yeger-Lotem, Esti
name: Wen, Xiaoquan
name: Struewing, Jeffery P.
name: Delaneau, Olivier
name: Tukiainen, Taru
name: Tomaszewski, Maria M.
name: Jo, Brian
name: Park, Yongjin
name: Martin, Casey
name: Bogu, Gireesh K.
name: Pierce, Brandon L.
name: Zhou, Yi-Hui
name: Eskin, Eleazar
name: Reverter, Ferran
name: Guigó, Roderic
name: Teran, Nicole A.
name: Lek, Monkol
name: Leinweber, William F.
name: Ardlie, Kristin G.
name: Kopen, Gene
name: Ongen, Halit
name: Lonsdale, John T.
name: Hall, Ira M.
name: Bustamante, Carlos D.
name: Quon, Gerald
name: Han, Buhm
name: Mohammadi, Pejman
name: Nicolae, Dan L.
name: Kellis, Manolis
name: Vivian, John
name: Robinson, Karna L.
name: Davis, David A.
name: Washington, Michael
name: Montroy, Robert G.
name: Craft, Brian
name: Wang, Gao
name: Garrido-Martín, Diego
name: Taylor, Kieron
name: Linder, Sandra
name: Hadley, Kane
name: Addington, Anjene M.
name: Davis, Joe R.
name: Siminoff, Laura A.
name: Miklos, Mark
name: Tsang, Emily K.
name: Diegel, Morgan
name: Mash, Deborah C.
name: McDowell, Ian C.
name: Lockhart, Nicole C.
name: Payne, Anthony J.
name: Abell, Nathan S.
name: Cummings, Beryl B.
name: Wheeler, Joseph
name: Matose, Takunda
name: Demanelis, Kathryn
name: Gliner, Genna
name: Stephens, Matthew
name: McDonald, Alisa
name: Rao, Abhi
name: Foster, Barbara A.
name: Frésard, Laure
name: Brown, Andrew A.
name: Zhang, Rui
name: Rinaldi, Nicola J.
name: Gillard, Bryan M.
name: Zerbino, Daniel R.
name: Sabatti, Chiara
name: Moore, Helen M.
name: Hasz, Richard
name: Brigham, Lori E.
name: Zaugg, Judith B.
name: Jian, Ruiqi
name: Conrad, Donald F.
name: Snyder, Michael P.
name: Im, Hae Kyung
name: Wu, Fan
name: MacArthur, Daniel G.
name: Liu, Boxiang
name: Gamazon, Eric R.
name: Jiang, Lihua
name: Sammeth, Michael
name: Johns, Christopher
name: Maurano, Matthew T.
name: Hansen, Kasper D.
name: Kang, Eun Yong
name: Myer, Kevin
name: Tang, Hua
name: Johnson, Mark
name: Fernando, Marian S.
name: Smith, Anna M.
name: Urbut, Sarah
name: Gould, Sarah E.
name: Van Wittenberghe, Nicholas
name: Lee, Christopher M.
name: Engelhardt, Barbara E.
name: Panousis, Nikolaos
name: Palowitch, John J.
name: Kibriya, Muhammad G.
name: Sheppard, Dan
name: McCarthy, Mark I.
name: Ndungu, Anne W.
name: Valentino, Kimberly M.
name: Sodaei, Reza
name: Sandstrom, Richard
name: Parsana, Princy
name: Kim, Yungil
name: Kumar, Rachna
name: Chan, Joanne
name: Little, A. Roger
name: Shimko, Tyler C.
name: Volpi, Simona
name: Li, Qin
name: Akey, Joshua M.
name: Walters, Gary
name: Roe, Bryan
name: Undale, Anita H.
name: Van De Bunt, Martijn
name: Addington, Anjene M.
name: Getz, Gad
name: Li, Jin Billy
name: Mangul, Serghei
name: Feinberg, Andrew P.
name: Sul, Jae Hoon
name: Rizzardi, Lindsay F.
name: Nguyen, Duyen T.
name: Stranger, Barbara E.
name: Um, Ki Sung
name: Flicek, Paul
name: Trevanion, Stephen J.
name: Vaught, Jimmie B.
name: Lockart, Nicole C.
name: Nedzel, Jared L.
name: Handsaker, Robert E.
name: Hunter, Marcus
name: Xi, Hualin S.
name: Bates, Daniel
name: Howald, Cedric
name: Roche, Nancy V.
name: Koester, Susan
name: Huang, Katherine H.
name: Sullivan, Timothy J.
name: Wang, Meng
name: Shabalin, Andrey A.
name: Shad, Saboor
name: Hariharan, Pushpa
name: He, Amy Z.
name: Qi, Liqun
name: Lappalainen, Tuuli
name: Li, Xin
name: Carithers, Latarsha J.
name: Mestichelli, Bernadette
name: Kashin, Seva
name: Li, Gen
name: Jasmine, Farzana
name: Juettemann, Thomas
name: Montgomery, Stephen B.
name: Zhang, Hailei
name: Traino, Heather M.
name: Mosavel, Maghboeba
name: Koester, Susan E.
name: Lin, Shin
name: Jewell, Scott D.
name: Johnson, Audra
name: Wang, Li
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2017

description: 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.