The Genotype-Tissue Expression (GTEx) project

被引：5875

作者：

Lonsdale, John ^{[1
]}

Thomas, Jeffrey ^{[1
]}

Salvatore, Mike ^{[1
]}

Phillips, Rebecca ^{[1
]}

Lo, Edmund ^{[1
]}

Shad, Saboor ^{[1
]}

Hasz, Richard ^{[2
]}

Walters, Gary ^{[3
]}

Garcia, Fernando ^{[4
]}

Young, Nancy ^{[5
]}

Foster, Barbara ^{[6
]}

Moser, Mike ^{[6
]}

Karasik, Ellen ^{[6
]}

Gillard, Bryan ^{[6
]}

Ramsey, Kimberley ^{[6
]}

Sullivan, Susan ^{[7
]}

Bridge, Jason ^{[7
]}

Magazine, Harold ^{[8
]}

Syron, John ^{[8
]}

Fleming, Johnelle ^{[8
]}

Siminoff, Laura ^{[9
]}

Traino, Heather ^{[9
]}

Mosavel, Maghboeba ^{[9
]}

Barker, Laura ^{[9
]}

Jewell, Scott ^{[10
]}

Rohrer, Dan ^{[10
]}

Maxim, Dan ^{[10
]}

Filkins, Dana ^{[10
]}

Harbach, Philip ^{[10
]}

Cortadillo, Eddie ^{[10
]}

Berghuis, Bree ^{[10
]}

Turner, Lisa ^{[10
]}

Hudson, Eric ^{[10
]}

Feenstra, Kristin ^{[10
]}

Sobin, Leslie ^{[11
]}

Robb, James ^{[11
]}

Branton, Phillip ^{[11
]}

Korzeniewski, Greg ^{[11
]}

Shive, Charles ^{[11
]}

Tabor, David ^{[11
]}

Qi, Liqun ^{[11
]}

Groch, Kevin ^{[11
]}

Nampally, Sreenath ^{[11
]}

Buia, Steve ^{[11
]}

Zimmerman, Angela ^{[11
]}

Smith, Anna ^{[11
]}

Burges, Robin ^{[11
]}

Robinson, Karna ^{[11
]}

Valentino, Kim ^{[11
]}

Bradbury, Deborah ^{[11
]}

机构：

[1] Natl Dis Res Interchange, Philadelphia, PA USA

[2] Gift Life Donor Program, Philadelphia, PA USA

[3] LifeNet Hlth, Virginia Beach, VA USA

[4] Drexel Univ, Coll Med, Philadelphia, PA 19104 USA

[5] Albert Einstein Med Ctr, Philadelphia, PA 19141 USA

[6] Roswell Pk Canc Inst, Buffalo, NY 14263 USA

[7] Upstate New York Transplant Serv, Buffalo, NY USA

[8] Sci Care Inc, Phoenix, AZ USA

[9] Virginia Commonwealth Univ, Richmond, VA USA

[10] Van Andel Inst, Grand Rapids, MI USA

[11] SAIC Frederick Inc, Frederick, MD USA

[12] Sapient Govt Serv, Arlington, VA USA

[13] Broad Inst Harvard & MIT, Cambridge, MA USA

[14] Massachusetts Gen Hosp, Res Ctr, Boston, MA 02114 USA

[15] MIT, Cambridge, MA 02139 USA

[16] Univ Miami, Sch Med, Miami, FL USA

[17] Harvard Univ, Boston, MA 02115 USA

[18] Mt Sinai Sch Med, New York, NY USA

[19] Univ Chicago, Chicago, IL 60637 USA

[20] Univ Chicago, Howard Hughes Med Inst, Chicago, IL 60637 USA

[21] Univ Geneva, Geneva, Switzerland

[22] Ctr Genom Regulat, Barcelona, Spain

[23] Stanford Univ, Palo Alto, CA 94304 USA

[24] Univ Oxford, Oxford, England

[25] Univ N Carolina, Chapel Hill, NC USA

[26] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA

[27] NIH, Div Program Coordinat Planning & Strateg Initiat, Off Strateg Coordinat Common Fund, Off Director, Bethesda, MD 20892 USA

[28] NHGRI, Bethesda, MD 20892 USA

[29] NIMH, Bethesda, MD 20892 USA

[30] NCI, Bethesda, MD 20892 USA

来源：

NATURE GENETICS | 2013年 / 45卷 / 06期

基金：

英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; HUMAN GENE-EXPRESSION; DISEASE;

D O I：

10.1038/ng.2653

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：580 / 585

页数：6

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