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dc.contributor.authorGilly, Arthur
dc.contributor.authorSuveges, Daniel
dc.contributor.authorKuchenbaecker, Karoline
dc.contributor.authorPollard, Martin
dc.contributor.authorSoutham, Lorraine
dc.contributor.authorHatzikotoulas, Konstantinos
dc.contributor.authorFarmaki, Aliki-Eleni
dc.contributor.authorBjørnland, Thea
dc.contributor.authorWaples, Ryan
dc.contributor.authorAppel, Emil
dc.contributor.authorCasalone, Elisabetta
dc.contributor.authorMelloni, Giorgio
dc.contributor.authorKilian, Britt
dc.contributor.authorRayner, William
dc.contributor.authorNtalla, Ioanna
dc.contributor.authorKundu, Kousik
dc.contributor.authorWalter, Klaudia
dc.contributor.authorDanesh, John
dc.contributor.authorButterworth, Adam
dc.contributor.authorBarroso, Ines
dc.contributor.authorTsafantakis, Emmanouil
dc.contributor.authorDedoussis, George
dc.contributor.authorMoltke, Ida
dc.contributor.authorZeggini, Eleftheria
dc.date.accessioned2018-12-12T08:44:02Z
dc.date.available2018-12-12T08:44:02Z
dc.date.created2018-11-27T11:58:36Z
dc.date.issued2018
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11250/2577276
dc.description.abstractThe role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify a role for rare regulatory variation, which has hitherto been missed. We find evidence of rare variant burdens that are independent of established common variant signals (ADIPOQ and adiponectin, P = 4.2 × 10−8; APOC3 and triglyceride levels, P = 1.5 × 10−26), and identify replicating evidence for a burden associated with triglyceride levels in FAM189B (P = 2.2 × 10−8), indicating a role for this gene in lipid metabolism.nb_NO
dc.language.isoengnb_NO
dc.publisherNature Researchnb_NO
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleCohort-wide deep whole genome sequencing and the allelic architecture of complex traitsnb_NO
dc.title.alternativeCohort-wide deep whole genome sequencing and the allelic architecture of complex traitsnb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionpublishedVersionnb_NO
dc.source.volume9nb_NO
dc.source.journalNature Communicationsnb_NO
dc.identifier.doi10.1038/s41467-018-07070-8
dc.identifier.cristin1635683
dc.description.localcode© The Author(s) 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)nb_NO
cristin.unitcode194,63,15,0
cristin.unitnameInstitutt for matematiske fag
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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