Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease

Barbara E. Stranger, Lori E. Brigham, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, Gene Kopen, William F. Leinweber, John T. Lonsdale, Alisa McDonald, Bernadette Mestichelli, Kevin Myer, Brian Roe, Michael Salvatore, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, Jason BridgeBarbara A. Foster, Bryan M. Gillard, Ellen Karasik, Rachna Kumar, Mark Miklos, Michael T. Moser, Scott D. Jewell, Robert G. Montroy, Daniel C. Rohrer, Dana R. Valley, David A. Davis, Deborah C Mash, Sarah E. Gould, Ping Guan, Susan Koester, A. Roger Little, Casey Martin, Helen M. Moore, Abhi Rao, Jeffery P. Struewing, Simona Volpi, Kasper D. Hansen, Peter F. Hickey, Lindsay F. Rizzardi, Lei Hou, Yaping Liu, Benoit Molinie, Yongjin Park, Nicola Rinaldi, Li Wang, Nicholas Wittenberghe, Melina Claussnitzer, Ellen T. Gelfand, Qin Li, Sandra Linder, Rui Zhang, Kevin S. Smith, Emily K. Tsang, Lin S. Chen, Kathryn Demanelis, Jennifer A. Doherty, Jasmine Farzana, Muhammad G. Kibriya, Lihua Jiang, Shin Lin, Meng Wang, Ruiqi Jian, Xiao Li, Joanne Chan, Daniel Bates, Morgan Diegel, Jessica Halow, Eric Haugen, Audra Johnson, Rajinder Kaul, Kristen Lee, Matthew T. Maurano, Jemma Nelson, Fidencio J. Neri, Richard Sandstrom, Marian S. Fernando, Caroline Linke, Meritxell Oliva, Andrew Skol, Fan Wu, Joshua M. Akey, Andrew P. Feinberg, Jin Li Billy, Brandon L. Pierce, John A. Stamatoyannopoulos, Hua Tang, Kristin G. Ardlie, Manolis Kellis, Michael P. Snyder, Stephen B. Montgomery

Research output: Contribution to journalReview article

51 Scopus citations

Abstract

Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

Original languageEnglish (US)
Pages (from-to)1664-1670
Number of pages7
JournalNature Genetics
Volume49
Issue number12
DOIs
StatePublished - Dec 1 2017

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ASJC Scopus subject areas

  • Genetics

Cite this

Stranger, B. E., Brigham, L. E., Hasz, R., Hunter, M., Johns, C., Johnson, M., Kopen, G., Leinweber, W. F., Lonsdale, J. T., McDonald, A., Mestichelli, B., Myer, K., Roe, B., Salvatore, M., Shad, S., Thomas, J. A., Walters, G., Washington, M., Wheeler, J., ... Montgomery, S. B. (2017). Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease. Nature Genetics, 49(12), 1664-1670. https://doi.org/10.1038/ng.3969