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The GTEx Consortium atlas of genetic regulatory effects across human tissues

  1. Author:
    Aguet, Francois
    Barbeira, Alvaro N.
    Bonazzola, Rodrigo
    Brown, Andrew
    Castel, Stephane E.
    Jo, Brian
    Kasela, Silva
    Kim-Hellmuth, Sarah
    Liang, Yanyu
    Parsana, Princy
    Flynn, Elise
    Fresard, Laure
    Gamazon, Eric R.
    Hamel, Andrew R.
    He, Yuan
    Hormozdiari, Farhad
    Mohammadi, Pejman
    Munoz-Aguirre, Manuel
    Ardlie, Kristin G.
    Battle, Alexis
    Bonazzola, Rodrigo
    Brown, Christopher D.
    Cox, Nancy
    Dermitzakis, Emmanouil T.
    Engelhardt, Barbara E.
    Garrido-Martin, Diego
    Gay, Nicole R.
    Getz, Gad
    Guigo, Roderic
    Hamel, Andrew R.
    Handsaker, Robert E.
    He, Yuan
    Hoffman, Paul J.
    Hormozdiari, Farhad
    Im, Hae Kyung
    Jo, Brian
    Kasela, Silva
    Kashin, Seva
    Kim-Hellmuth, Sarah
    Kwong, Alan
    Lappalainen, Tuuli
    Li, Xiao
    Liang, Yanyu
    MacArthur, Daniel G.
    Mohammadi, Pejman
    Montgomery, Stephen B.
    Munoz-Aguirre, Manuel
    Rouhana, John M.
    Hormozdiari, Farhad
    Im, Hae Kyung
    Kim-Hellmuth, Sarah
    Ardlie, Kristin G.
    Getz, Gad
    Guigo, Roderic
    Im, Hae Kyung
    Lappalainen, Tuuli
    Montgomery, Stephen B.
    Im, Hae Kyung
    Lappalainen, Tuuli
    Lappalainen, Tuuli
    Anand, Shankara
    Gabriel, Stacey
    Getz, Gad
    Graubert, Aaron
    Hadley, Kane
    Handsaker, Robert E.
    Huang, Katherine H.
    Kashin, Seva
    Li, Xiao
    MacArthur, Daniel G.
    Meier, Samuel R.
    Nedzel, Jared L.
    Balliu, Brunilda
    Conrad, Don
    Cotter, Daniel J.
    Das, Sayantan
    de Goede, Olivia M.
    Eskin, Eleazar
    Eulalio, Tiffany Y.
    Ferraro, Nicole M.
    Garrido-Martin, Diego
    Gay, Nicole R.
    Getz, Gad
    Graubert, Aaron
    Guigo, Roderic
    Hadley, Kane
    Hamel, Andrew R.
    Handsaker, Robert E.
    He, Yuan
    Hoffman, Paul J.
    Hormozdiari, Farhad
    Hou, Lei
    Huang, Katherine H.
    Im, Hae Kyung
    Jo, Brian
    Kasela, Silva
    Kashin, Seva
    Kellis, Manolis
    Kim-Hellmuth, Sarah
    Kwong, Alan
    Lappalainen, Tuuli
    Li, Xiao
    Li, Xin
    Liang, Yanyu
    MacArthur, Daniel G.
    Mangul, Serghei
    Meier, Samuel R.
    Mohammadi, Pejman
    Montgomery, Stephen B.
    Munoz-Aguirre, Manuel
    Nachun, Daniel C.
    Nedzel, Jared L.
    Nguyen, Duyen Y.
    Nobel, Andrew B.
    Park, YoSon
    Reverter, Ferran
    Sabatti, Chiara
    Saha, Ashis
    Segre, Ayellet
    Stephens, Matthew
    Strober, Benjamin J.
    Teran, Nicole A.
    Todres, Ellen
    Vinuela, Ana
    Wang, Gao
    Wen, Xiaoquan
    Wright, Fred
    Wucher, Valentin
    Zou, Yuxin
    Ferreira, Pedro G.
    Li, Gen
    Mele, Marta
    Yeger-Lotem, Esti
    Barcus, Mary E.
    Bradbury, Debra
    Krubit,Tanya
    McLean,Jeff
    Qi,Liqun
    Robinson, Karna
    Roche,Nancy
    Smith, Anna M.
    Tabor,David
    Undale, Anita
    Bridge, Jason
    Brigham, Lori E.
    Foster, Barbara A.
    Gillard, Bryan M.
    Hasz, Richard
    Hunter, Marcus
    Johns, Christopher
    Johnson, Mark
    Karasik, Ellen
    Kopen, Gene
    Leinweber, William F.
    McDonald, Alisa
    Moser, Michael T.
    Myer, Kevin
    Ramsey, Kimberley D.
    Roe, Brian
    Shad, Saboor
    Thomas, Jeffrey A.
    Walters, Gary
    Washington, Michael
    Wheeler, Joseph
    Jewell, Scott D.
    Rohrer, Daniel C.
    Valley, Dana R.
    Davis, David A.
    Mash, Deborah C.
    Branton, Philip A.
    Sobin, Leslie
    Barker, Laura K.
    Gardiner, Heather M.
    Mosavel, Maghboeba
    Siminoff, Laura A.
    Flicek, Paul
    Haeussler, Maximilian
    Juettemann, Thomas
    Kent, W. James
    Lee, Christopher M.
    Powell, Conner C.
    Rosenbloom, Kate R.
    Ruffier, Magali
    Sheppard, Dan
    Taylor, Kieron
    Trevanion, Stephen J.
    Zerbino, Daniel R.
    Abell, Nathan S.
    Akey, Joshua
    Chen, Lin
    Demanelis, Kathryn
    Doherty, Jennifer A.
    Feinberg, Andrew P.
    Hansen, Kasper D.
    Hickey, Peter F.
    Hou, Lei
    Jasmine, Farzana
    Jiang, Lihua
    Kaul, Rajinder
    Kellis, Manolis
    Kibriya, Muhammad G.
    Li, Jin Billy
    Li, Qin
    Lin, Shin
    Linder, Sandra E.
    Montgomery, Stephen B.
    Oliva, Meritxell
    Park, Yongjin
    Pierce, Brandon L.
    Rizzardi, Lindsay F.
    Skol, Andrew D.
    Smith, Kevin S.
    Snyder, Michael
    Stamatoyannopoulos, John
    Tang, Hua
    Wang, Meng
    Carithers, Latarsha J.
    Guan, Ping
    Koester, Susan E.
    Little, A. Roger
    Moore, Helen M.
    Nierras, Concepcion R.
    Rao, Abhi K.
    Vaught, Jimmie B.
    Volpi, Simona

  2. Author Address

    Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.Univ Chicago, Dept Med, Sect Genet Med, 5841 S Maryland Ave, Chicago, IL 60637 USA.Univ Geneva, Dept Genet Med & Dev, Med Sch, Geneva, Switzerland.Univ Dundee, Populat Hlth & Genom, Dundee, Scotland.New York Genome Ctr, New York, NY 10013 USA.Columbia Univ, Dept Syst Biol, New York, NY 10027 USA.Princeton Univ, Dept Comp Sci, Princeton, NJ 08544 USA.Princeton Univ, Ctr Stat & Machine Learning, Princeton, NJ 08544 USA.Max Planck Inst Psychiat, Stat Genet, Munich, Germany.Univ Chicago, Dept Publ Hlth Sci, Chicago, IL 60637 USA.Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA.Stanford Univ, Dept Pathol, Stanford, CA 94305 USA.Vanderbilt Univ, Data Sci Inst, Nashville, TN USA.Univ Cambridge, Clare Hall, Cambridge, England.Univ Cambridge, MRC Epidemiol Unit, Cambridge, England.Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN USA.Harvard Med Sch, Massachusetts Eye & Ear, Ocular Genom Inst, Boston, MA 02115 USA.Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD USA.Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.Scripps Res Translat Inst, La Jolla, CA USA.Scripps Res Inst, Dept Integrat Struct & Computat Biol, La Jolla, CA USA.Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Barcelona, Catalonia, Spain.Univ Politecn Catalunya UPC, Dept Stat & Operat Res, Barcelona, Catalonia, Spain.Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA.Univ Penn, Dept Syst Pharmacol & Translat Therapeut, Perelman Sch Med, Philadelphia, PA 19104 USA.Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.Univ Geneva, Inst Genet & Genom Geneva iGE3, Geneva, Switzerland.Swiss Inst Bioinformat, Geneva, Switzerland.Stanford Univ, Dept Genet, Stanford, CA 94305 USA.Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA.Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA.Harvard Med Sch, Boston, MA 02115 USA.Univ Pompeu Fabra UPF, Barcelona, Catalonia, Spain.Harvard Med Sch, Dept Genet, Boston, MA 02115 USA.Broad Inst MIT & Harvard Univ, Program Med & Populat Genet, Cambridge, MA USA.Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA.Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.Northwestern Univ, Ctr Genet Med, Dept Pharmacol, Chicago, IL USA.Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England.Univ Chicago, Dept Stat, Chicago, IL 60637 USA.Univ Calif Los Angeles, Dept Biomath, Los Angeles, CA USA.Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA.Oregon Hlth & Sci Univ, Oregon Natl Primate Res Ctr, Div Genet, Portland, OR 97201 USA.Columbia Univ, Dept Biomed Informat, New York, NY USA.Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90024 USA.Stanford Univ, Program Biomed Informat, Sch Med, Stanford, CA USA.MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA.Univ Southern Calif, Sch Pharm, Dept Clin Pharm, Los Angeles, CA USA.Univ N Carolina, Dept Stat & Operat Res, Chapel Hill, NC USA.Univ N Carolina, Dept Biostat, Chapel Hill, NC 27515 USA.Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA.Univ Barcelona, Dept Genet Microbiol & Stat, Barcelona, Spain.Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA.Stanford Univ, Dept Stat, Stanford, CA 94305 USA.Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pathol & Lab Med, Chicago, IL 60611 USA.North Carolina State Univ, Bioinformat Res Ctr, Raleigh, NC USA.North Carolina State Univ, Dept Stat, Raleigh, NC USA.North Carolina State Univ, Dept Biol Sci, Raleigh, NC USA.Univ Porto, Fac Sci, Dept Comp Sci, Porto, Portugal.Univ Porto, Inst Invest & Inovacao Saude, Porto, Portugal.Univ Porto, Inst Mol Pathol & Immunol, Porto, Portugal.Inst Syst & Comp Engn Technol & Sci, Lab Artificial Intelligence & Decis Support, Porto, Portugal.Columbia Univ, Mailman Sch Publ Hlth, New York, NY USA.Barcelona Supercomp Ctr, Life Sci Dept, Barcelona, Spain.Ben Gurion Univ Negev, Dept Clin Biochem & Pharmacol, Beer Sheva, Israel.Natl Inst Biotechnol Negev, Beer Sheva, Israel.Leidos Biomed, Frederick, MD USA.Leidos Biomed, Rockville, MD USA.UNYTS, Buffalo, NY USA.Washington Reg Transplant Community, Annandale, VA USA.Roswell Park Comprehens Canc Ctr, Therapeut, Buffalo, NY USA.Gift Life Donor Program, Philadelphia, PA USA.Life Gift, Houston, TX USA.Ctr Organ Recovery & Educ, Pittsburgh, PA USA.LifeNet Hlth, Virginia Beach, VA USA.Natl Dis Res Interchange, Philadelphia, PA USA.Van Andel Res Inst, Grand Rapids, MI USA.Univ Miami, Dept Neurol, Miller Sch Med, Miami, FL USA.NCI, Biorepositories & Biospecimen Res Branch, Div Canc Treatment & Diag, Bethesda, MD USA.Temple Univ, Coll Publ Hlth, Philadelphia, PA 19122 USA.Virgina Commonwealth Univ, Richmond, VA USA.European Mol Biol Lab, European Bioinformat Inst, Hinxton, England.Univ Calif Santa Cruz, Genom Inst, Santa Cruz, CA USA.Princeton Univ, Carl Icahn Lab, Princeton, NJ 08544 USA.Univ Utah, Dept Populat Hlth Sci, Salt Lake City, UT USA.Johns Hopkins Univ, Dept Med, Baltimore, MD USA.Johns Hopkins Univ, Dept Mental Hlth, Baltimore, MD USA.Johns Hopkins Univ, Dept Biostat, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA.Walter & Eliza Hall Inst Med Res, Dept Med Biol, Parkville, Vic, Australia.Altius Inst Biomed Sci, Seattle, WA USA.Univ Washington, Div Genet, Seattle, WA USA.Univ Washington, Dept Cardiol, Seattle, WA USA.Hudson Alpha Inst Biotechnol, Huntsville, AL USA.Univ Washington, Genome Sci, Seattle, WA 98195 USA.Natl Inst Dent & Craniotacial Res, Bethesda, MD USA.NIMS, Div Neurosci & Basic Behav Sci, NIH, Bethesda, MD USA.NIDA, Bethesda, MD 20892 USA.NIH, Off Strateg Coordinat, Div Program Coordinat, Planning & Strateg Initiat,Off Director, Rockville, MD USA.NHGRI, Div Genom Med, Bethesda, MD 20892 USA.
    1. Year: 2020
    2. Date: SEP 11
  2. Journal: SCIENCE
  3. AMER ASSOC ADVANCEMENT SCIENCE,
    1. 369
    2. 6509
    3. Pages: 1318-+
  5. Type of Article: Article
  6. ISSN: 0036-8075
  1. Abstract:

    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.

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  1. Keywords:

External Sources

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  2. DOI: 10.1126/science.aaz1776
  3. View record in Web of Science®
  4. WOS: 000569840300041

Library Notes

  1. Fiscal Year: FY2020-2021
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