Sökning: onr:"swepub:oai:DiVA.org:umu-211785" > Deficit of homozygo...
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001 | oai:DiVA.org:umu-211785 | |
003 | SwePub | |
008 | 230712s2023 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:153086021 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2117852 URI |
024 | 7 | a https://doi.org/10.1038/s41467-023-38951-22 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1530860212 URI |
040 | a (SwePub)umud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Oddsson, Asmunduru deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
245 | 1 0 | a Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality |
264 | 1 | b Springer Nature,c 2023 |
338 | a electronic2 rdacarrier | |
500 | a Correction: Oddsson, A., Sulem, P., Sveinbjornsson, G. et al. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. Nat Commun 14, 3923 (2023). DOI: 10.1038/s41467-023-39492-4 | |
520 | a Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Sulem, Patricku deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Sveinbjornsson, Gardaru deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Arnadottir, Gudny A.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Steinthorsdottir, Valgerduru deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Halldorsson, Gisli H.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Atlason, Bjarni A.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Oskarsson, Gudjon R.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Helgason, Hannesu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Nielsen, Henriette Svarreu Deptartment of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark4 aut |
700 | 1 | a Westergaard, Davidu Deptartment of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Methods and Analysis, Statistics Denmark, Copenhagen, Denmark4 aut |
700 | 1 | a Karjalainen, Juha M.u Institute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland4 aut |
700 | 1 | a Katrinardottir, Hildigunnuru deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Fridriksdottir, Runu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Jensson, Brynjar O.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Tragante, Viniciusu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Ferkingstad, Egilu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Jonsson, Hakonu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Gudjonsson, Sigurjon A.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Beyter, Doruku deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Moore, Kristjan H. S.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Thordardottir, Helga B.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Kristmundsdottir, Snaedisu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Stefansson, Olafur A.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Rantapää-Dahlqvist, Solbrittu Umeå universitet,Reumatologi4 aut0 (Swepub:umu)sora0001 |
700 | 1 | a Sonderby, Ida Elkenu Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway; NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway4 aut |
700 | 1 | a Didriksen, Mariau Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark4 aut |
700 | 1 | a Stridh, Pernillau Karolinska Institutet4 aut |
700 | 1 | a Haavik, Janu Department of Biomedicine, University of Bergen, Bergen, Norway; Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway4 aut |
700 | 1 | a Tryggvadottir, Laufeyu Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland; Faculty of Medicine, BMC, Laeknagardur, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Frei, Oleksandru NORMENT Centre, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway; Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway4 aut |
700 | 1 | a Walters, G. Bragiu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Kockum, Ingridu Karolinska Institutet4 aut |
700 | 1 | a Hjalgrim, Henriku Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark; Danish Cancer Society Research Center, Copenhagen, Denmark; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark4 aut |
700 | 1 | a Olafsdottir, Thorunn A.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Selbaek, Geiru Norwegian National Centre of Ageing and Health, Vestfold Hospital Trust, Tonsberg, Norway; Department of Geriatric Medicine, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway4 aut |
700 | 1 | a Nyegaard, Metteu Deptartment of Health Science and Technology, Aalborg University, Aalborg, Denmark4 aut |
700 | 1 | a Erikstrup, Christianu Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark4 aut |
700 | 1 | a Brodersen, Thorstenu Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark4 aut |
700 | 1 | a Saevarsdottir, Saedisu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Olsson, Tomasu Karolinska Institutet4 aut |
700 | 1 | a Nielsen, Kaspar Reneu Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark4 aut |
700 | 1 | a Haraldsson, Asgeiru Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children’s Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland4 aut |
700 | 1 | a Bruun, Mie Topholmu Department of Clinical Immunology, Odense University Hospital, Odense, Denmark4 aut |
700 | 1 | a Hansen, Thomas Folkmannu Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark4 aut |
700 | 1 | a Brunak, Sørenu Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark4 aut |
700 | 1 | a Nielsen, Kasper Reneu Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark4 aut |
700 | 1 | a Brun, Mie Topholmu Department of Clinical Immunology, Odense University Hospital, Odense, Denmark4 aut |
700 | 1 | a Gudbjartsson, Danielu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland4 aut |
700 | 1 | a Stefánsson, Hreinnu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Þorsteinsdóttir, Unnuru deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Steingrimsdottir, Thorau Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Jacobsen, Rikke Louiseu Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark4 aut |
700 | 1 | a Lie, Rolv T.u Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway4 aut |
700 | 1 | a Djurovic, Srdjanu Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway; NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway4 aut |
700 | 1 | a Alfredsson, Larsu Karolinska Institutet4 aut |
700 | 1 | a Lopez de Lapuente Portilla, Aitzkoau Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden4 aut |
700 | 1 | a Brunak, Sorenu Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark4 aut |
700 | 1 | a Melsted, Pallu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Halldorsson, Bjarni V.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland4 aut |
700 | 1 | a Saemundsdottir, Jonau deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Magnusson, Olafur Th.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Padyukov, Leonidu Karolinska Institutet4 aut |
700 | 1 | a Banasik, Karinau Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark4 aut |
700 | 1 | a Rafnar, Thorunnu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Askling, Johanu Karolinska Institutet4 aut |
700 | 1 | a Klareskog, Larsu Karolinska Institutet4 aut |
700 | 1 | a Pedersen, Ole Birgeru Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark4 aut |
700 | 1 | a Masson, Gisliu deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Havdahl, Alexandrau Department of Mental Disorders, Norwegian Institute of Public Health, Oslo, Norway; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway4 aut |
700 | 1 | a Nilsson, Bjornu Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden4 aut |
700 | 1 | a Andreassen, Ole A.u NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway4 aut |
700 | 1 | a Daly, Marku Institute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland; Analytic and Translational Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Broad Institute of MIT and Harvard, MA, Cambridge, United States4 aut |
700 | 1 | a Ostrowski, Sisse Ryeu Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Deptartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark4 aut |
700 | 1 | a Jonsdottir, Ingileifu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Holm, Hilmau deCODE genetics/Amgen, Inc., Reykjavik, Iceland4 aut |
700 | 1 | a Helgason, Agnaru deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Thorsteinsdottir, Unnuru deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Stefansson, Kariu deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 aut |
700 | 1 | a Gudbjartsson, Daniel F.u deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland4 aut |
710 | 2 | a deCODE genetics/Amgen, Inc., Reykjavik, Icelandb deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland4 org |
773 | 0 | t Nature Communicationsd : Springer Natureg 14:1q 14:1x 2041-1723 |
856 | 4 | u https://doi.org/10.1038/s41467-023-38951-2y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:1782028/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-211785 |
856 | 4 8 | u https://doi.org/10.1038/s41467-023-38951-2 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:153086021 |
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