Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

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Fältnamn	Indikatorer	Metadata
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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 Neuroimmunology Unit, Department of Clinical Neuroscience, Center of Molecular Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden4 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 Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden4 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 Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden4 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 Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden4 aut
700	1	a Klareskog, Larsu Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden4 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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