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dc.contributor.authorPetersen, Ren
dc.contributor.authorLambourne, Johnen
dc.contributor.authorJavierre, BMen
dc.contributor.authorGrassi, Luigien
dc.contributor.authorKreuzhuber, Ren
dc.contributor.authorRuklisa, Daceen
dc.contributor.authorRosa, IMen
dc.contributor.authorTomé, ARen
dc.contributor.authorElding, Hen
dc.contributor.authorvan Geffen, JPen
dc.contributor.authorJiang, Taoen
dc.contributor.authorFarrow, Sen
dc.contributor.authorCairns, Jen
dc.contributor.authorAl-Subaie, AMen
dc.contributor.authorAshford, Sen
dc.contributor.authorAttwood, Aen
dc.contributor.authorBatista, Jen
dc.contributor.authorBouman, Hen
dc.contributor.authorBurden, Fen
dc.contributor.authorChoudry, FAen
dc.contributor.authorClarke, Len
dc.contributor.authorFlicek, Pen
dc.contributor.authorGarner, SFen
dc.contributor.authorHaimel, Matthiasen
dc.contributor.authorKempster, Cen
dc.contributor.authorLadopoulos, Ven
dc.contributor.authorLenaerts, A-Sen
dc.contributor.authorMaterek, PMen
dc.contributor.authorMcKinney, Hen
dc.contributor.authorMeacham, Sen
dc.contributor.authorMead, Den
dc.contributor.authorNagy, Men
dc.contributor.authorPenkett, CJen
dc.contributor.authorRendon Restrepo, Augustoen
dc.contributor.authorSeyres, Denisen
dc.contributor.authorSun, Benen
dc.contributor.authorTuna, Salihen
dc.contributor.authorvan der Weide, M-Een
dc.contributor.authorWingett, SWen
dc.contributor.authorMartens, JHen
dc.contributor.authorStegle, Oen
dc.contributor.authorRichardson, Sylviaen
dc.contributor.authorVallier, Ludovicen
dc.contributor.authorRoberts, DJen
dc.contributor.authorFreson, Ken
dc.contributor.authorWernisch, Lorenzen
dc.contributor.authorStunnenberg, HGen
dc.contributor.authorDanesh, Johnen
dc.contributor.authorFraser, Pen
dc.contributor.authorSoranzo, Nicoleen
dc.contributor.authorButterworth, Adamen
dc.contributor.authorHeemskerk, JWen
dc.contributor.authorTurro Bassols, Ernesten
dc.contributor.authorSpivakov, Men
dc.contributor.authorOuwehand, Willemen
dc.contributor.authorAstle, Williamen
dc.contributor.authorDownes, Kateen
dc.contributor.authorKostadima, Men
dc.contributor.authorFrontini, Mattiaen
dc.date.accessioned2017-08-17T10:51:19Z
dc.date.available2017-08-17T10:51:19Z
dc.date.issued2017-07-13en
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/266540
dc.description.abstractLinking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to determine the mechanisms underpinning variant association with platelet quantitative traits using cell type-matched epigenomic data and promoter long-range interactions. We identify potential regulatory functions for 423 of 565 (75%) non-coding variants associated with platelet traits and we demonstrate, through ex vivo and proof of principle genome editing validation, that variants in super enhancers play an important role in controlling archetypical platelet functions.
dc.languageengen
dc.language.isoenen
dc.publisherSpringer Nature
dc.rightsAttribution 4.0 Internationalen
dc.rightsAttribution 4.0 Internationalen
dc.rightsAttribution 4.0 Internationalen
dc.rightsAttribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.titlePlatelet function is modified by common sequence variation in megakaryocyte super enhancersen
dc.typeArticle
prism.number16058en
prism.publicationDate2017en
prism.publicationNameNature Communicationsen
prism.volume8en
dc.identifier.doi10.17863/CAM.12682
dcterms.dateAccepted2017-05-19en
rioxxterms.versionofrecord10.1038/ncomms16058en
rioxxterms.versionVoRen
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/en
rioxxterms.licenseref.startdate2017-07-13en
dc.contributor.orcidLambourne, John [0000-0003-2460-0759]
dc.contributor.orcidGrassi, Luigi [0000-0002-6308-7540]
dc.contributor.orcidHaimel, Matthias [0000-0002-0320-0214]
dc.contributor.orcidRendon Restrepo, Augusto [0000-0001-8994-0039]
dc.contributor.orcidSeyres, Denis [0000-0002-2066-6980]
dc.contributor.orcidSun, Ben [0000-0001-6347-2281]
dc.contributor.orcidTuna, Salih [0000-0003-3606-4367]
dc.contributor.orcidRichardson, Sylvia [0000-0003-1998-492X]
dc.contributor.orcidVallier, Ludovic [0000-0002-3848-2602]
dc.contributor.orcidDanesh, John [0000-0003-1158-6791]
dc.contributor.orcidSoranzo, Nicole [0000-0003-1095-3852]
dc.contributor.orcidButterworth, Adam [0000-0002-6915-9015]
dc.contributor.orcidTurro Bassols, Ernest [0000-0002-1820-6563]
dc.contributor.orcidOuwehand, Willem [0000-0002-7744-1790]
dc.contributor.orcidAstle, William [0000-0001-8866-6672]
dc.contributor.orcidDownes, Kate [0000-0003-0366-1579]
dc.contributor.orcidFrontini, Mattia [0000-0001-8074-6299]
dc.identifier.eissn2041-1723
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idMRC (G0800270)
pubs.funder-project-idMRC (MR/L003120/1)
pubs.funder-project-idMRC (MC_PC_12009)
pubs.funder-project-idEC FP7 NOE (282510)
pubs.funder-project-idEuropean Research Council (268834)
pubs.funder-project-idMRC (MR/K024043/1)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Spreading Excellence and Widening Participation (692041)
pubs.funder-project-idBritish Heart Foundation (RG/08/014/24067)
pubs.funder-project-idBritish Heart Foundation (RE/13/6/30180)
pubs.funder-project-idMRC (unknown)
pubs.funder-project-idMRC (unknown)


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International