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dc.creatorBarbeira, AN
dc.creatorDickinson, SP
dc.creatorBonazzola, R
dc.creatorZheng, J
dc.creatorWheeler, HE
dc.creatorTorres, JM
dc.creatorTorstenson, ES
dc.creatorShah, KP
dc.creatorGarcia, T
dc.creatorEdwards, TL
dc.creatorStahl, EA
dc.creatorHuckins, LM
dc.creatorAguet, F
dc.creatorArdlie, KG
dc.creatorCummings, BB
dc.creatorGelfand, ET
dc.creatorGetz, G
dc.creatorHadley, K
dc.creatorHandsaker, RE
dc.creatorHuang, KH
dc.creatorKashin, S
dc.creatorKarczewski, KJ
dc.creatorLek, M
dc.creatorLi, X
dc.creatorMacArthur, DG
dc.creatorNedzel, JL
dc.creatorNguyen, DT
dc.creatorNoble, MS
dc.creatorSegrè, AV
dc.creatorTrowbridge, CA
dc.creatorTukiainen, T
dc.creatorAbell, NS
dc.creatorBalliu, B
dc.creatorBarshir, R
dc.creatorBasha, O
dc.creatorBattle, A
dc.creatorBogu, GK
dc.creatorBrown, A
dc.creatorBrown, CD
dc.creatorCastel, SE
dc.creatorChen, LS
dc.creatorChiang, C
dc.creatorConrad, DF
dc.creatorDamani, FN
dc.creatorDavis, JR
dc.creatorDelaneau, O
dc.creatorDermitzakis, ET
dc.creatorEngelhardt, BE
dc.creatorEskin, E
dc.creatorFerreira, PG
dc.creatorFrésard, L
dc.creatorGamazon, ER
dc.creatorGarrido-Martín, D
dc.creatorGewirtz, ADH
dc.creatorGliner, G
dc.creatorGloudemans, MJ
dc.creatorGuigo, R
dc.creatorHall, IM
dc.creatorHan, B
dc.creatorHe, Y
dc.creatorHormozdiari, F
dc.creatorHowald, C
dc.creatorJo, B
dc.creatorKang, EY
dc.creatorKim, Y
dc.creatorKim-Hellmuth, S
dc.creatorLappalainen, T
dc.creatorLi, G
dc.creatorLi, X
dc.creatorLiu, B
dc.creatorMangul, S
dc.creatorMcCarthy, MI
dc.creatorMcDowell, IC
dc.creatorMohammadi, P
dc.creatorMonlong, J
dc.creatorMontgomery, SB
dc.creatorMuñoz-Aguirre, M
dc.creatorNdungu, AW
dc.creatorNobel, AB
dc.creatorOliva, M
dc.creatorOngen, H
dc.creatorPalowitch, JJ
dc.creatorPanousis, N
dc.creatorPapasaikas, P
dc.creatorPark, YS
dc.creatorParsana, P
dc.creatorPayne, AJ
dc.creatorPeterson, CB
dc.creatorQuan, J
dc.creatorReverter, F
dc.creatorSabatti, C
dc.creatorSaha, A
dc.creatorSammeth, M
dc.creatorScott, AJ
dc.creatorShabalin, AA
dc.creatorSodaei, R
dc.creatorStephens, M
dc.creatorStranger, BE
dc.creatorStrober, BJ
dc.creatorSul, JH
dc.date.accessioned2021-01-14T17:09:53Z
dc.date.available2021-01-14T17:09:53Z
dc.date.issued2018-12-01
dc.identifier.issn2041-1723
dc.identifier.issn2041-1723
dc.identifier.doihttp://dx.doi.org/10.34944/dspace/4648
dc.identifier.other29739930 (pubmed)
dc.identifier.urihttp://hdl.handle.net/20.500.12613/4666
dc.description.abstract© 2018 The Author(s). Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy and general robustness to misspecified reference sets. We apply this framework to 44 GTEx tissues and 100+ phenotypes from GWAS and meta-analysis studies, creating a growing public catalog of associations that seeks to capture the effects of gene expression variation on human phenotypes. Replication in an independent cohort is shown. Most of the associations are tissue specific, suggesting context specificity of the trait etiology. Colocalized significant associations in unexpected tissues underscore the need for an agnostic scanning of multiple contexts to improve our ability to detect causal regulatory mechanisms. Monogenic disease genes are enriched among significant associations for related traits, suggesting that smaller alterations of these genes may cause a spectrum of milder phenotypes.
dc.format.extent1825-
dc.language.isoen
dc.relation.haspartNature Communications
dc.relation.isreferencedbySpringer Science and Business Media LLC
dc.rightsCC BY
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectChromosome Mapping
dc.subjectComputer Simulation
dc.subjectGene Expression
dc.subjectGenetic Variation
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectMeta-Analysis as Topic
dc.subjectModels, Genetic
dc.subjectOrgan Specificity
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectQuantitative Trait Loci
dc.titleExploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
dc.typeArticle
dc.type.genreJournal Article
dc.relation.doi10.1038/s41467-018-03621-1
dc.ada.noteFor Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu
dc.creator.orcidGardiner, Heather Marie|0000-0003-2017-991X
dc.creator.orcidSiminoff, Laura|0000-0002-6775-665X
dc.date.updated2021-01-14T17:09:46Z
refterms.dateFOA2021-01-14T17:09:53Z


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