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dc.creatorAguet, F
dc.creatorBrown, AA
dc.creatorCastel, SE
dc.creatorDavis, JR
dc.creatorHe, Y
dc.creatorJo, B
dc.creatorMohammadi, P
dc.creatorPark, YS
dc.creatorParsana, P
dc.creatorSegrè, AV
dc.creatorStrober, BJ
dc.creatorZappala, Z
dc.creatorCummings, BB
dc.creatorGelfand, ET
dc.creatorHadley, K
dc.creatorHuang, KH
dc.creatorLek, M
dc.creatorLi, X
dc.creatorNedzel, JL
dc.creatorNguyen, DY
dc.creatorNoble, MS
dc.creatorSullivan, TJ
dc.creatorTukiainen, T
dc.creatorMacArthur, DG
dc.creatorGetz, G
dc.creatorAddington, A
dc.creatorGuan, P
dc.creatorKoester, S
dc.creatorLittle, AR
dc.creatorLockhart, NC
dc.creatorMoore, HM
dc.creatorRao, A
dc.creatorStruewing, JP
dc.creatorVolpi, S
dc.creatorBrigham, LE
dc.creatorHasz, R
dc.creatorHunter, M
dc.creatorJohns, C
dc.creatorJohnson, M
dc.creatorKopen, G
dc.creatorLeinweber, WF
dc.creatorLonsdale, JT
dc.creatorMcDonald, A
dc.creatorMestichelli, B
dc.creatorMyer, K
dc.creatorRoe, B
dc.creatorSalvatore, M
dc.creatorShad, S
dc.creatorThomas, JA
dc.creatorWalters, G
dc.creatorWashington, M
dc.creatorWheeler, J
dc.creatorBridge, J
dc.creatorFoster, BA
dc.creatorGillard, BM
dc.creatorKarasik, E
dc.creatorKumar, R
dc.creatorMiklos, M
dc.creatorMoser, MT
dc.creatorJewell, SD
dc.creatorMontroy, RG
dc.creatorRohrer, DC
dc.creatorValley, D
dc.creatorMash, DC
dc.creatorDavis, DA
dc.creatorSobin, L
dc.creatorBarcus, ME
dc.creatorBranton, PA
dc.creatorAbell, NS
dc.creatorBalliu, B
dc.creatorDelaneau, O
dc.creatorFrésard, L
dc.creatorGamazon, ER
dc.creatorGarrido-Martín, D
dc.creatorGewirtz, ADH
dc.creatorGliner, G
dc.creatorGloudemans, MJ
dc.creatorHan, B
dc.creatorHe, AZ
dc.creatorHormozdiari, F
dc.creatorLi, X
dc.creatorLiu, B
dc.creatorKang, EY
dc.creatorMcDowell, IC
dc.creatorOngen, H
dc.creatorPalowitch, JJ
dc.creatorPeterson, CB
dc.creatorQuon, G
dc.creatorRipke, S
dc.creatorSaha, A
dc.creatorShabalin, AA
dc.creatorShimko, TC
dc.creatorSul, JH
dc.creatorTeran, NA
dc.creatorTsang, EK
dc.creatorZhang, H
dc.creatorZhou, YH
dc.creatorBustamante, CD
dc.creatorCox, NJ
dc.creatorGuigó, R
dc.date.accessioned2021-01-22T15:14:20Z
dc.date.available2021-01-22T15:14:20Z
dc.date.issued2017-10-11
dc.identifier.issn0028-0836
dc.identifier.issn1476-4687
dc.identifier.doihttp://dx.doi.org/10.34944/dspace/4852
dc.identifier.other29022597 (pubmed)
dc.identifier.urihttp://hdl.handle.net/20.500.12613/4870
dc.description.abstract© 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. 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.
dc.format.extent204-213
dc.language.isoen
dc.relation.haspartNature
dc.relation.isreferencedbySpringer Science and Business Media LLC
dc.rightsCC BY
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAlleles
dc.subjectChromosomes, Human
dc.subjectDisease
dc.subjectFemale
dc.subjectGene Expression Profiling
dc.subjectGene Expression Regulation
dc.subjectGenetic Variation
dc.subjectGenome, Human
dc.subjectGenotype
dc.subjectHumans
dc.subjectMale
dc.subjectOrgan Specificity
dc.subjectQuantitative Trait Loci
dc.titleGenetic effects on gene expression across human tissues
dc.typeArticle
dc.type.genreJournal Article
dc.relation.doi10.1038/nature24277
dc.ada.noteFor Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu
dc.creator.orcidSiminoff, Laura|0000-0002-6775-665X
dc.creator.orcidGardiner, Heather Marie|0000-0003-2017-991X
dc.date.updated2021-01-22T15:14:14Z
refterms.dateFOA2021-01-22T15:14:21Z


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