Gtex Database

references/citation.bib

@ARTICLE{Consortium2020,
  ABSTRACT = {The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing. Some human genetic variants affect the amount of RNA produced and the splicing of gene transcripts, crucial steps in development and maintaining a healthy individual. However, some of these changes only occur in a small number of tissues within the body. The Genotype-Tissue Expression (GTEx) project has been expanded over time, and, looking at the final data in version 8, Aguet et al. present a deep characterization of genetic associations and gene expression and splicing in 838 individuals over 49 tissues (see the Perspective by Wilson). This large study was able to characterize the details underlying many aspects of gene expression and provides a resource with which to better understand the fundamental molecular mechanisms of how genetic variants affect gene regulation and complex traits in humans. Science, this issue p. 1318; see also p. 1298 The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.},
  AUTHOR = {{The GTEx Consortium} and Aguet, François and Anand, Shankara and Ardlie, Kristin G. and Gabriel, Stacey and Getz, Gad A. and Graubert, Aaron and Hadley, Kane and Handsaker, Robert E. and Huang, Katherine H. and Kashin, Seva and Li, Xiao and MacArthur, Daniel G. and Meier, Samuel R. and Nedzel, Jared L. and Nguyen, Duyen T. and Segrè, Ayellet V. and Todres, Ellen and Balliu, Brunilda and Barbeira, Alvaro N. and Battle, Alexis and Bonazzola, Rodrigo and Brown, Andrew and Brown, Christopher D. and Castel, Stephane E. and Conrad, Donald F. and Cotter, Daniel J. and Cox, Nancy and Das, Sayantan and de Goede, Olivia M. and Dermitzakis, Emmanouil T. and Einson, Jonah and Engelhardt, Barbara E. and Eskin, Eleazar and Eulalio, Tiffany Y. and Ferraro, Nicole M. and Flynn, Elise D. and Fresard, Laure and Gamazon, Eric R. and Garrido-Martín, Diego and Gay, Nicole R. and Gloudemans, Michael J. and Guigó, Roderic and Hame, Andrew R. and He, Yuan and Hoffman, Paul J. and Hormozdiari, Farhad and Hou, Lei and Im, Hae Kyung and Jo, Brian and Kasela, Silva and Kellis, Manolis and Kim-Hellmuth, Sarah and Kwong, Alan and Lappalainen, Tuuli and Li, Xin and Liang, Yanyu and Mangul, Serghei and Mohammadi, Pejman and Montgomery, Stephen B. and Muñoz-Aguirre, Manuel and Nachun, Daniel C. and Nobel, Andrew B. and Oliva, Meritxell and Park, YoSon and Park, Yongjin and Parsana, Princy and Rao, Abhiram S. and Reverter, Ferran and Rouhana, John M. and Sabatti, Chiara and Saha, Ashis and Stephens, Matthew and Stranger, Barbara E. and Strober, Benjamin J. and Teran, Nicole A. and Viñuela, Ana and Wang, Gao and Wen, Xiaoquan and Wright, Fred and Wucher, Valentin and Zou, Yuxin and Ferreira, Pedro G. and Li, Gen and Melé, Marta and Yeger-Lotem, Esti and Barcus, Mary E. and Bradbury, Debra and Krubit, Tanya and McLean, Jeffrey A. and Qi, Liqun and Robinson, Karna and Roche, Nancy V. and Smith, Anna M. and Sobin, Leslie and Tabor, David E. and Undale, Anita and Bridge, Jason and Brigham, Lori E. and Foster, Barbara A. and Gillard, Bryan M. and Hasz, Richard and Hunter, Marcus and Johns, Christopher and Johnson, Mark and Karasik, Ellen and Kopen, Gene and Leinweber, William F. and McDonald, Alisa and Moser, Michael T. and Myer, Kevin and Ramsey, Kimberley D. and Roe, Brian and Shad, Saboor and Thomas, Jeffrey A. and Walters, Gary and Washington, Michael and Wheeler, Joseph and Jewell, Scott D. and Rohrer, Daniel C. and Valley, Dana R. and Davis, David A. and Mash, Deborah C. and Branton, Philip A. and Barker, Laura K. and Gardiner, Heather M. and Mosavel, Maghboeba and Siminoff, Laura A. and Flicek, Paul and Haeussler, Maximilian and Juettemann, Thomas and Kent, W. James and Lee, Christopher M. and Powell, Conner C. and Rosenbloom, Kate R. and Ruffier, Magali and Sheppard, Dan and Taylor, Kieron and Trevanion, Stephen J. and Zerbino, Daniel R. and Abell, Nathan S. and Akey, Joshua and Chen, Lin and Demanelis, Kathryn and Doherty, Jennifer A. and Feinberg, Andrew P. and Hansen, Kasper D. and Hickey, Peter F. and Jasmine, Farzana and Jiang, Lihua and Kaul, Rajinder and Kibriya, Muhammad G. and Li, Jin Billy and Li, Qin and Lin, Shin and Linder, Sandra E. and Pierce, Brandon L. and Rizzardi, Lindsay F. and Skol, Andrew D. and Smith, Kevin S. and Snyder, Michael and Stamatoyannopoulos, John and Tang, Hua and Wang, Meng and Carithers, Latarsha J. and Guan, Ping and Koester, Susan E. and Little, A. Roger and Moore, Helen M. and Nierras, Concepcion R. and Rao, Abhi K. and Vaught, Jimmie B. and Volpi, Simona},
  URL = {https://www.science.org/doi/abs/10.1126/science.aaz1776},
  DATE = {2020},
  DOI = {10.1126/science.aaz1776},
  EPRINT = {https://www.science.org/doi/pdf/10.1126/science.aaz1776},
  JOURNALTITLE = {Science},
  NUMBER = {6509},
  PAGES = {1318--1330},
  TITLE = {The {GTEx Consortium} atlas of genetic regulatory effects across human tissues},
  VOLUME = {369},
}