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Sökning: onr:"swepub:oai:DiVA.org:umu-211785" > Deficit of homozygo...

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

Oddsson, Asmundur (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Sulem, Patrick (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Sveinbjornsson, Gardar (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
visa fler...
Arnadottir, Gudny A. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Steinthorsdottir, Valgerdur (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Halldorsson, Gisli H. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Atlason, Bjarni A. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Oskarsson, Gudjon R. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Helgason, Hannes (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Nielsen, Henriette Svarre (författare)
Deptartment of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
Westergaard, David (författare)
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, Denmark
Karjalainen, Juha M. (författare)
Institute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland
Katrinardottir, Hildigunnur (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Fridriksdottir, Run (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Jensson, Brynjar O. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Tragante, Vinicius (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Ferkingstad, Egil (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Jonsson, Hakon (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Gudjonsson, Sigurjon A. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Beyter, Doruk (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Moore, Kristjan H. S. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
Thordardottir, Helga B. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Kristmundsdottir, Snaedis (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Stefansson, Olafur A. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Rantapää-Dahlqvist, Solbritt (författare)
Umeå universitet,Reumatologi
Sonderby, Ida Elken (författare)
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, Norway
Didriksen, Maria (författare)
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Stridh, Pernilla (författare)
Neuroimmunology Unit, Department of Clinical Neuroscience, Center of Molecular Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
Haavik, Jan (författare)
Department of Biomedicine, University of Bergen, Bergen, Norway; Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway
Tryggvadottir, Laufey (författare)
Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland; Faculty of Medicine, BMC, Laeknagardur, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Frei, Oleksandr (författare)
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, Norway
Walters, G. Bragi (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Kockum, Ingrid (författare)
Karolinska Institutet
Hjalgrim, Henrik (författare)
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, Denmark
Olafsdottir, Thorunn A. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Selbaek, Geir (författare)
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, Norway
Nyegaard, Mette (författare)
Deptartment of Health Science and Technology, Aalborg University, Aalborg, Denmark
Erikstrup, Christian (författare)
Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Brodersen, Thorsten (författare)
Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark
Saevarsdottir, Saedis (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Olsson, Tomas (författare)
Karolinska Institutet
Nielsen, Kaspar Rene (författare)
Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
Haraldsson, Asgeir (författare)
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children’s Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland
Bruun, Mie Topholm (författare)
Department of Clinical Immunology, Odense University Hospital, Odense, Denmark
Hansen, Thomas Folkmann (författare)
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, Denmark
Brunak, Søren (författare)
Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Nielsen, Kasper Rene (författare)
Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
Brun, Mie Topholm (författare)
Department of Clinical Immunology, Odense University Hospital, Odense, Denmark
Gudbjartsson, Daniel (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
Stefánsson, Hreinn (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Þorsteinsdóttir, Unnur (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Steingrimsdottir, Thora (författare)
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Jacobsen, Rikke Louise (författare)
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Lie, Rolv T. (författare)
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway
Djurovic, Srdjan (författare)
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, Norway
Alfredsson, Lars (författare)
Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
Lopez de Lapuente Portilla, Aitzkoa (författare)
Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
Brunak, Soren (författare)
Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Melsted, Pall (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
Halldorsson, Bjarni V. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
Saemundsdottir, Jona (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Magnusson, Olafur Th. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Padyukov, Leonid (författare)
Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
Banasik, Karina (författare)
Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Rafnar, Thorunn (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Askling, Johan (författare)
Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
Klareskog, Lars (författare)
Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
Pedersen, Ole Birger (författare)
Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark
Masson, Gisli (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Havdahl, Alexandra (författare)
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, Norway
Nilsson, Bjorn (författare)
Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
Andreassen, Ole A. (författare)
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, Norway
Daly, Mark (författare)
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 States
Ostrowski, Sisse Rye (författare)
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Deptartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Jonsdottir, Ingileif (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Holm, Hilma (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland
Helgason, Agnar (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
Thorsteinsdottir, Unnur (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Stefansson, Kari (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Gudbjartsson, Daniel F. (författare)
deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
visa färre...
deCODE genetics/Amgen, Inc, Reykjavik, Iceland deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland (creator_code:org_t)
Springer Nature, 2023
2023
Engelska.
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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.

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MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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Olafsdottir, Tho ...
Selbaek, Geir
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Banasik, Karina
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