Skip NavigationSkip to Content
Return Return to Search Results

Genetic effects on gene expression across human tissues

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

  2. Author Address

    Harvard Univ, Broad Inst Massachusetts Inst Technol, Cambridge, MA 02142 USA.Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.Massachusetts Gen, Massachusetts Gen Hosp, Hosp Canc Ctr & Dept Pathol, Boston, MA 02114 USA.Harvard Med Sch, Dept Genet, Boston, MA 02114 USA.Stanford Univ, Dept Genet, Stanford, CA 94305 USA.Stanford Univ, Dept Pathol, Stanford, CA 94305 USA.Ben Gurion Univ Negev, Dept Clin Biochem & Pharmacol, Fac Hlth Sci, Negev, IL-84105 Beer Sheva, Israel.Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA.Barcelona Inst Sci & Technol, Ctr Genom Regulat CRC, Barcelona 08003, Spain.Univ Pompeu Fabra UPF, Barcelona 08002, Spain.Univ Geneva Med Sch, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland.Univ Geneva, Inst Genet & Genom Geneva iG3, CH-1211 Geneva, Switzerland.Swiss Inst Bioinformat, CH-1211 Geneva, Switzerland.Univ Pennsylvania, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA.New York Genome Ctr, New York, NY 10013 USA.Columbia Univ rvlecl Ctr, Dept Syst Biol, New York, NY 10032 USA.Univ Chicago, Dept Publ Hlth Sci, Chicago, IL 60637 USA.Washington Univ Sch Med, McDonnell Genome Inst, St Louis, MO USA.Washington Univ Sch Med, Dept Genet, St Louis, MO 63108 USA.Washington Univ Sch Med, Dept Pathol Immunol, St Louis, MO 63108 USA.Vanderbilt Univ tvlecl Ctr, Dept tvleclicine, Divis Genet Med, Nashville, TN 37232 USA.Princeton Univ, Dept Comp Sci, Ctr Stat & Machine Learning, Princeton, NJ 08540 USA.Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90095 USA.Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA.Univ Porto, Inst Investigac Inovac Saucle i3S, P-4200135 Oporto, Portugal.Univ Porto, Inst Mol Pathol & Immunol IPATIMUP, P-4200625 Oporto, Portugal.Univ Amsterdam, Acad Mecl Ctr, Dept Clin Epidemiol, Biostatist & Bioinformat, NL-1105 AZ Amsterdam, Netherlands.Univ Amsterdam, Acad Med Ctr, Dept Psychiat, NL-1105 AZ Amsterdam, Netherlands.Princeton Univ, Lewis Sigler Inst, Princeton, NJ 08540 USA.Princeton Univ, Dept Operat Res & Financial Engn, Princeton, NJ 08540 USA.Stanford Univ, Biomed Informat Program, Stanford, CA 94305 USA.Inst Hosp Mar Investigac Med IMIM, Barcelona 08003, Spain.Washington Univ Sch Med, Dept Med, St Louis, MO 63108 USA.Univ Ulsan Coll Med, Dept Convergence Med, Asan Med Ctr, Seoul 138736, South Korea.Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD 21218 USA.Univ Chicago, Sect Genet Med, Dept Med, Chicago, IL 60637 USA.Columbia Univ, Mailman Sch Publ Hlth, Dept Biostatist, New York, NY 10032 USA.Stanford Univ, Dept Biol, Stanford, CA 94305 USA.Univ Oxford, Nuffield Dept Med, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.Univ Oxford, Churchill Hosp, Ctr Diabet, Endocrinol & Metab, Oxford 033 7LE, England.Oxford NIHR Biomed Res Ctr, Churchill Hosp, Oxford 0X3 7LJ, England.Duke Univ, Computat Biol Bioinformat Grad Program, Durham, NC 27708 USA.McGill Univ, Human Genet Dept, Montreal, PQ H3A 2T5, Canada.Univ Politecn Cataluna, Dept Estadist Investigac Operat, Barcelona 08034, Spain.Univ Chicago, Dept Stat, Chicago, IL 60637 USA.Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.Univ N Carolina, Dept Stat & Operat Res, Chapel Hill, NC 27599 USA.Univ N Carolina, Dept Biostatist, Chapel Hill, NC 27599 USA.Univ Chicago, Inst Genom & Syst Biol, Chicago, IL 60637 USA.Univ Texas MD Anderson Canc Ctr, Dept Biostatist, Houston, TX 77030 USA.Pfizer Inc, Computat Sci, Cambridge, MA 02139 USA.Univ Barcelona, E-08028 Barcelona, Spain.Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA.Stanford Univ, Dept Stat, Stanford, CA 94305 USA.Fed Univ Rio Janeiro UFRJ, Inst Biophys Carlos Chagas Filho IBCCF, BR-21941902 Rio De Janeiro, Brazil.Univ Utah, Dept Psychiat, Salt Lake City, UT 84108 USA.Univ Chicago, Ctr Data Intens Sci, Chicago, IL 60637 USA.Univ Calif Los Angeles, Dept Psychiat & Biobehavi Sci, Los Angeles, CA 90095 USA.Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.N Carolina State Univ, Bioinformat Res Ctr, Dept Stat & Biol Sci, Raleigh, NC 27695 USA.Natl Inst Biotechnol Negev, IL-34105 Beer Sheva, Israel.European Mol Biol Lab, D-69117 Heidelberg, Germany.Princeton Univ, Dept Ecol & Evolutionary Biol, Princeton, NJ USA.Altius Inst Biomed Sci, Seattle, WA 98121 USA.Harvard Med Sch, Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA.Univ Hohenheim, D-70599 Stuttgart, Germany.Univ Utah, Huntsman Canc Inst, Dept Populat Hlth Sci, Salt Lake City, UT 84112 USA.Johns Hopkins Univ Sch Med, Ctr Epigenet, Baltimore, MD 21205 USA.Johns Hopkins Univ Sch Med, Dept Med, Baltimore, MD 21205 USA.Johns Hopkins Univ Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD 21205 USA.McKusick Nathans Inst Genet Med, Johns Hopkins Sch Med, Baltimore, MD 21205 USA.Johns Hopkins Univ, Dept Biostat, Baltimore, MD 21205 USA.MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA.Univ Washington, Dept Med, Seattle, WA 98195 USA.Univ Washington, Div Cardiol, Seattle, WA 98195 USA.New York Univ Langone Med Ctr, Inst Syst Genet, New York, NY 10016 USA.Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA.Div Program Coordinat, Off Strateg Coordinat, Planning & Strateg Initiat, Rockville, MD 20852 USA.Natl Canc Inst, Div Canc Treatment & Diag, Biorepositories & Biospecimen Res Branch, Bethesda, MD 20892 USA.Natl Inst Dent & Craniofacial Res, Bethesda, MD 20892 USA.Natl Human Genome Res Inst, Divis Genom Med, Rockville, MD 20852 USA.Natl Inst Mental Hlth, Div Neuroscience & Basic Behav Sci, NIH, Bethesda, MD 20892 USA.Natl Inst Drug Abuse, Div Neuroscience & Behav, NIH, Bethesda, MD USA.Washington Reg Transplant Community, Falls Church, VA 22003 USA.Gift Life Donor Program, Philadelphia, PA 19103 USA.LifeGift, Houston, TX 77055 USA.Ctr Organ Recovery & Educ, Pittsburgh, PA 15238 USA.LifeNet Hlth, Virginia Beach, VA 23453 USA.Natl Dis Res Interchange, Philadelphia, PA 19103 USA.Unyts, Buffalo, NY 14203 USA.Roswell Pk Canc Inst, Pharmacol & Therapeut, Buffalo, NY 14263 USA.Nan Andel Res Inst, Grand Rapids, MI 49503 USA.Univ Miami, Miller Sch Med, Brain Endowment Bank, Miami, FL 33136 USA.Natl Inst Allergy & Infect Dis, NIH, Rockville, MD 20852 USA.Leidos Biomedical Res Inc, Clin Res Directorate, Biospecimen Res Grp, Rockville, MD 20852 USA.Leidos Biomed Res Inc, Frederick, MD 21701 USA.Temple Univ, Philadelphia, PA 19122 USA.Virginia Commonwealth Univ, Sch Med, Dept Hlth Behav & Policy, Richmond, VA 23298 USA.European Bioinformat Inst, European Mol Biol Lab, Hinxton CB1O ISD, England.Univ Calif Santa Cruz, UCSC Genom Inst, Santa Cruz, CA 95064 USA.
    1. Year: 2017
    2. Date: OCT 12
  2. Journal: NATURE
  3. NATURE PUBLISHING GROUP,
    1. 550
    2. 7675
    3. Pages: 204-+
  5. Type of Article: Article
  6. ISSN: 0028-0836
  1. Abstract:

    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.

    See More

  1. Keywords:

External Sources

  1. View Full Text
  2. DOI: 10.1038/nature24277
  3. View record in Web of Science®
  4. WOS: 000412829500039

Library Notes

  1. Fiscal Year: FY2017-2018
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel