The Genotype-Tissue Expression (GTEx) project

doi:10.1038/ng.2653

. 2013 Jun;45(6):580-5.

doi: 10.1038/ng.2653.

The Genotype-Tissue Expression (GTEx) project

GTEx Consortium¹

Collaborators, Affiliations

Collaborators

GTEx Consortium:
John Lonsdale, Jeffrey Thomas, Mike Salvatore, Rebecca Phillips, Edmund Lo, Saboor Shad, Richard Hasz, Gary Walters, Fernando Garcia, Nancy Young, Barbara Foster, Mike Moser, Ellen Karasik, Bryan Gillard, Kimberley Ramsey, Susan Sullivan, Jason Bridge, Harold Magazine, John Syron, Johnelle Fleming, Laura Siminoff, Heather Traino, Maghboeba Mosavel, Laura Barker, Scott Jewell, Dan Rohrer, Dan Maxim, Dana Filkins, Philip Harbach, Eddie Cortadillo, Bree Berghuis, Lisa Turner, Eric Hudson, Kristin Feenstra, Leslie Sobin, James Robb, Phillip Branton, Greg Korzeniewski, Charles Shive, David Tabor, Liqun Qi, Kevin Groch, Sreenath Nampally, Steve Buia, Angela Zimmerman, Anna Smith, Robin Burges, Karna Robinson, Kim Valentino, Deborah Bradbury, Mark Cosentino, Norma Diaz-Mayoral, Mary Kennedy, Theresa Engel, Penelope Williams, Kenyon Erickson, Kristin Ardlie, Wendy Winckler, Gad Getz, David DeLuca, Daniel MacArthur, Manolis Kellis, Alexander Thomson, Taylor Young, Ellen Gelfand, Molly Donovan, George Grant, Deborah Mash, Yvonne Marcus, Margaret Basile, Jun Liu, Jun Zhu, Zhidong Tu, Nancy J Cox, Dan L Nicolae, Eric R Gamazon, Hae Kyung, Anuar Konkashbaev, Jonathan Pritchard, Matthew Stevens, Timothèe Flutre, Xiaoquan Wen, T Dermitzakis, Tuuli Lappalainen, Roderic Guigo, Jean Monlong, Michael Sammeth, Daphne Koller, Alexis Battle, Sara Mostafavi, Mark McCarthy, Manual Rivas, Julian Maller, Ivan Rusyn, Andrew Nobel, Fred Wright, Andrey Shabalin, Mike Feolo, Nataliya Sharopova, Anne Sturcke, Justin Paschal, James M Anderson, Elizabeth L Wilder, Leslie K Derr, Eric D Green, Jeffery P Struewing, Gary Temple, Simona Volpi, Joy T Boyer, Elizabeth J Thomson, Mark S Guyer, Cathy Ng, Assya Abdallah, Deborah Colantuoni, Thomas R Insel, Susan E Koester, A Roger Little, Patrick K Bender, Thomas Lehner, Yin Yao, Carolyn C Compton, Jimmie B Vaught, Sherilyn Sawyer, Nicole C Lockhart, Joanne Demchok, Helen F Moore

Affiliation

¹ National Disease Research Interchange, Philadelphia, Pennsylvania, USA.

PMID: 23715323
PMCID: PMC4010069
DOI: 10.1038/ng.2653

The Genotype-Tissue Expression (GTEx) project

GTEx Consortium. Nat Genet. 2013 Jun.

. 2013 Jun;45(6):580-5.

doi: 10.1038/ng.2653.

Author

GTEx Consortium¹

Collaborators

GTEx Consortium:
John Lonsdale, Jeffrey Thomas, Mike Salvatore, Rebecca Phillips, Edmund Lo, Saboor Shad, Richard Hasz, Gary Walters, Fernando Garcia, Nancy Young, Barbara Foster, Mike Moser, Ellen Karasik, Bryan Gillard, Kimberley Ramsey, Susan Sullivan, Jason Bridge, Harold Magazine, John Syron, Johnelle Fleming, Laura Siminoff, Heather Traino, Maghboeba Mosavel, Laura Barker, Scott Jewell, Dan Rohrer, Dan Maxim, Dana Filkins, Philip Harbach, Eddie Cortadillo, Bree Berghuis, Lisa Turner, Eric Hudson, Kristin Feenstra, Leslie Sobin, James Robb, Phillip Branton, Greg Korzeniewski, Charles Shive, David Tabor, Liqun Qi, Kevin Groch, Sreenath Nampally, Steve Buia, Angela Zimmerman, Anna Smith, Robin Burges, Karna Robinson, Kim Valentino, Deborah Bradbury, Mark Cosentino, Norma Diaz-Mayoral, Mary Kennedy, Theresa Engel, Penelope Williams, Kenyon Erickson, Kristin Ardlie, Wendy Winckler, Gad Getz, David DeLuca, Daniel MacArthur, Manolis Kellis, Alexander Thomson, Taylor Young, Ellen Gelfand, Molly Donovan, George Grant, Deborah Mash, Yvonne Marcus, Margaret Basile, Jun Liu, Jun Zhu, Zhidong Tu, Nancy J Cox, Dan L Nicolae, Eric R Gamazon, Hae Kyung, Anuar Konkashbaev, Jonathan Pritchard, Matthew Stevens, Timothèe Flutre, Xiaoquan Wen, T Dermitzakis, Tuuli Lappalainen, Roderic Guigo, Jean Monlong, Michael Sammeth, Daphne Koller, Alexis Battle, Sara Mostafavi, Mark McCarthy, Manual Rivas, Julian Maller, Ivan Rusyn, Andrew Nobel, Fred Wright, Andrey Shabalin, Mike Feolo, Nataliya Sharopova, Anne Sturcke, Justin Paschal, James M Anderson, Elizabeth L Wilder, Leslie K Derr, Eric D Green, Jeffery P Struewing, Gary Temple, Simona Volpi, Joy T Boyer, Elizabeth J Thomson, Mark S Guyer, Cathy Ng, Assya Abdallah, Deborah Colantuoni, Thomas R Insel, Susan E Koester, A Roger Little, Patrick K Bender, Thomas Lehner, Yin Yao, Carolyn C Compton, Jimmie B Vaught, Sherilyn Sawyer, Nicole C Lockhart, Joanne Demchok, Helen F Moore

Affiliation

¹ National Disease Research Interchange, Philadelphia, Pennsylvania, USA.

PMID: 23715323
PMCID: PMC4010069
DOI: 10.1038/ng.2653

Abstract

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

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Figures

**Figure 1**
Effect of sample size and MAF on power to detect eQTLs. (a) Power for *cis*-eQTL analysis in which we assume α = 0.05/200,000, reflecting Bonferroni correction for 200,000 hypotheses based on 20,000 genes and an average of 10 non-redundant SNPs in the region ±100 kb of each gene. (b) Power for *trans*-eQTL analysis in which we test 20,000 genes against 5 million SNPS in a total of 1 × 10¹¹ tests with α = 5 × 10⁻¹³.

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References

1. Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322:881–888. - PMC - PubMed
1. Hindorff LA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106:9362–9367. - PMC - PubMed
1. Gilad Y, Rifkin SA, Pritchard JK. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 2008;24:408–415. - PMC - PubMed
1. Emilsson V, et al. Genetics of gene expression and its effect on disease. Nature. 2008;452:423–428. - PubMed
1. Schadt EE, et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 2008;6:e107. - PMC - PubMed

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[1] Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322:881–888. - PMC - PubMed

[2] Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science. 2008;322:881–888. - PMC - PubMed

[3] Hindorff LA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106:9362–9367. - PMC - PubMed

[4] Hindorff LA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106:9362–9367. - PMC - PubMed

[5] Gilad Y, Rifkin SA, Pritchard JK. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 2008;24:408–415. - PMC - PubMed

[6] Gilad Y, Rifkin SA, Pritchard JK. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 2008;24:408–415. - PMC - PubMed

[7] Emilsson V, et al. Genetics of gene expression and its effect on disease. Nature. 2008;452:423–428. - PubMed

[8] Emilsson V, et al. Genetics of gene expression and its effect on disease. Nature. 2008;452:423–428. - PubMed

[9] Schadt EE, et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 2008;6:e107. - PMC - PubMed

[10] Schadt EE, et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 2008;6:e107. - PMC - PubMed

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The Genotype-Tissue Expression (GTEx) project

Collaborators

Affiliation

The Genotype-Tissue Expression (GTEx) project

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Collaborators

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