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dc.contributor.authorBeyter, Doruk
dc.contributor.authorIngimundardottir, Helga
dc.contributor.authorOddsson, Asmundur
dc.contributor.authorEggertsson, Hannes P
dc.contributor.authorBjornsson, Eythor
dc.contributor.authorJonsson, Hakon
dc.contributor.authorAtlason, Bjarni A
dc.contributor.authorKristmundsdottir, Snaedis
dc.contributor.authorMehringer, Svenja
dc.contributor.authorHardarson, Marteinn T
dc.contributor.authorGudjonsson, Sigurjon A
dc.contributor.authorMagnusdottir, Droplaug N
dc.contributor.authorJonasdottir, Aslaug
dc.contributor.authorJonasdottir, Adalbjorg
dc.contributor.authorKristjansson, Ragnar P
dc.contributor.authorSverrisson, Sverrir T
dc.contributor.authorHolley, Guillaume
dc.contributor.authorPalsson, Gunnar
dc.contributor.authorStefansson, Olafur A
dc.contributor.authorEyjolfsson, Gudmundur
dc.contributor.authorOlafsson, Isleifur
dc.contributor.authorSigurdardottir, Olof
dc.contributor.authorTorfason, Bjarni
dc.contributor.authorMasson, Gisli
dc.contributor.authorHelgason, Agnar
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorHolm, Hilma
dc.contributor.authorGudbjartsson, Daniel F
dc.contributor.authorSulem, Patrick
dc.contributor.authorMagnusson, Olafur T
dc.contributor.authorHalldorsson, Bjarni V
dc.contributor.authorStefansson, Kari
dc.date.accessioned2021-08-25T15:36:14Z
dc.date.available2021-08-25T15:36:14Z
dc.date.issued2021-05-10
dc.date.submitted2021-08
dc.identifier.citationBeyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA, Kristmundsdottir S, Mehringer S, Hardarson MT, Gudjonsson SA, Magnusdottir DN, Jonasdottir A, Jonasdottir A, Kristjansson RP, Sverrisson ST, Holley G, Palsson G, Stefansson OA, Eyjolfsson G, Olafsson I, Sigurdardottir O, Torfason B, Masson G, Helgason A, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Sulem P, Magnusson OT, Halldorsson BV, Stefansson K. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nat Genet. 2021 Jun;53(6):779-786. doi: 10.1038/s41588-021-00865-4.en_US
dc.identifier.pmid33972781
dc.identifier.doi10.1038/s41588-021-00865-4
dc.identifier.urihttp://hdl.handle.net/2336/621857
dc.descriptionTo access publisher's full text version of this article click on the hyperlink belowen_US
dc.description.abstractLong-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits. We discovered an association of a rare deletion in PCSK9 with lower low-density lipoprotein (LDL) cholesterol levels, compared to the population average. We also discovered an association of a multiallelic SV in ACAN with height; we found 11 alleles that differed in the number of a 57-bp-motif repeat and observed a linear relationship between the number of repeats carried and height. These results show that SVs can be accurately characterized at the population scale using LRS data in a genome-wide non-targeted approach and demonstrate how SVs impact phenotypes.en_US
dc.language.isoenen_US
dc.publisherNature Pub. Coen_US
dc.relation.urlhttps://www.nature.com/articles/s41588-021-00865-4en_US
dc.titleLong-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.en_US
dc.typeArticleen_US
dc.identifier.eissn1546-1718
dc.contributor.department1deCODE genetics/Amgen, Inc., Reykjavik, Iceland. 2School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 3Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 4Department of Internal Medicine, Landspitali-the National University Hospital of Iceland, Reykjavik, Iceland. 5School of Technology, Reykjavik University, Reykjavik, Iceland. 6Algorithmic Bioinformatics (ABI), Freie Universitat Berlin, Berlin, Germany. 7The Laboratory in Mjodd, Reykjavik, Iceland. 8Department of Clinical Biochemistry, Landspitali-the National University Hospital of Iceland, Reykjavik, Iceland. 9Department of Clinical Biochemistry, Akureyri Hospital, Akureyri, Iceland. 10Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 11Department of Cardiothoracic Surgery, Landspitali-the National University Hospital, Reykjavik, Iceland. 12Department of Anthropology, University of Iceland, Reykjavik, Iceland. 13deCODE genetics/Amgen, Inc., Reykjavik, Iceland. bjarnih@decode.is. 14School of Technology, Reykjavik University, Reykjavik, Iceland. bjarnih@decode.is. 15deCODE genetics/Amgen, Inc., Reykjavik, Iceland. kstefans@decode.is. 16Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kstefans@decode.is.en_US
dc.identifier.journalNature geneticsen_US
dc.rights.accessLandspitali Access - LSH-aðganguren_US
dc.departmentcodeMAB12
dc.departmentcodeTAS12
dc.source.journaltitleNature genetics
dc.source.volume53
dc.source.issue6
dc.source.beginpage779
dc.source.endpage786
dc.source.countryUnited States


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