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Deficit of homozygo...
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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- Oddsson, Asmundur (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Sulem, Patrick (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Sveinbjornsson, Gardar (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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visa fler...
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- Arnadottir, Gudny A. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Steinthorsdottir, Valgerdur (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Halldorsson, Gisli H. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Atlason, Bjarni A. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Oskarsson, Gudjon R. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Helgason, Hannes (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- 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
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- 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
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- Karjalainen, Juha M. (författare)
- Institute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland
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- Katrinardottir, Hildigunnur (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Fridriksdottir, Run (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Jensson, Brynjar O. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Tragante, Vinicius (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Ferkingstad, Egil (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Jonsson, Hakon (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Gudjonsson, Sigurjon A. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Beyter, Doruk (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Moore, Kristjan H. S. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
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- Thordardottir, Helga B. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Kristmundsdottir, Snaedis (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Stefansson, Olafur A. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Rantapää-Dahlqvist, Solbritt (författare)
- Umeå universitet,Reumatologi
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- 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
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- Didriksen, Maria (författare)
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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- Stridh, Pernilla (författare)
- Karolinska Institutet
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- Haavik, Jan (författare)
- Department of Biomedicine, University of Bergen, Bergen, Norway; Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway
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- 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
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- 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
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- Walters, G. Bragi (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Kockum, Ingrid (författare)
- Karolinska Institutet
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- 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
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- Olafsdottir, Thorunn A. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- 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
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- Nyegaard, Mette (författare)
- Deptartment of Health Science and Technology, Aalborg University, Aalborg, Denmark
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- Erikstrup, Christian (författare)
- Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
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- Brodersen, Thorsten (författare)
- Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark
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- Saevarsdottir, Saedis (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Olsson, Tomas (författare)
- Karolinska Institutet
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- Nielsen, Kaspar Rene (författare)
- Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
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- Haraldsson, Asgeir (författare)
- Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children’s Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland
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- Bruun, Mie Topholm (författare)
- Department of Clinical Immunology, Odense University Hospital, Odense, Denmark
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- 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
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- Brunak, Søren (författare)
- Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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- Nielsen, Kasper Rene (författare)
- Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
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- Brun, Mie Topholm (författare)
- Department of Clinical Immunology, Odense University Hospital, Odense, Denmark
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- Gudbjartsson, Daniel (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
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- Stefánsson, Hreinn (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Þorsteinsdóttir, Unnur (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Steingrimsdottir, Thora (författare)
- Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Jacobsen, Rikke Louise (författare)
- Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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- 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
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- 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
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- Alfredsson, Lars (författare)
- Karolinska Institutet
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- Lopez de Lapuente Portilla, Aitzkoa (författare)
- Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
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- Brunak, Soren (författare)
- Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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- Melsted, Pall (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
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- Halldorsson, Bjarni V. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
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- Saemundsdottir, Jona (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Magnusson, Olafur Th. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Padyukov, Leonid (författare)
- Karolinska Institutet
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- Banasik, Karina (författare)
- Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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- Rafnar, Thorunn (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Askling, Johan (författare)
- Karolinska Institutet
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- Klareskog, Lars (författare)
- Karolinska Institutet
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- 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
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- Masson, Gisli (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- 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
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- Nilsson, Bjorn (författare)
- Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
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- 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
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- 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
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- 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
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- Jonsdottir, Ingileif (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Holm, Hilma (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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- Helgason, Agnar (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
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- Thorsteinsdottir, Unnur (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Stefansson, Kari (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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- Gudbjartsson, Daniel F. (författare)
- deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
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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.
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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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.
Ämnesord
- 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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Oddsson, Asmundu ...
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Sulem, Patrick
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Atlason, Bjarni ...
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Karjalainen, Juh ...
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Katrinardottir, ...
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Jensson, Brynjar ...
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Tragante, Vinici ...
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Ferkingstad, Egi ...
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Jonsson, Hakon
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Gudjonsson, Sigu ...
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Beyter, Doruk
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Moore, Kristjan ...
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Thordardottir, H ...
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Kristmundsdottir ...
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Stefansson, Olaf ...
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Rantapää-Dahlqvi ...
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Sonderby, Ida El ...
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Didriksen, Maria
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Stridh, Pernilla
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Haavik, Jan
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Tryggvadottir, L ...
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Frei, Oleksandr
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Walters, G. Brag ...
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Kockum, Ingrid
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Hjalgrim, Henrik
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Olafsdottir, Tho ...
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Selbaek, Geir
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Nyegaard, Mette
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Erikstrup, Chris ...
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Brodersen, Thors ...
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Saevarsdottir, S ...
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Olsson, Tomas
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Nielsen, Kaspar ...
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Haraldsson, Asge ...
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Bruun, Mie Topho ...
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Hansen, Thomas F ...
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Brunak, Søren
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Nielsen, Kasper ...
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Stefánsson, Hrei ...
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Þorsteinsdóttir, ...
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Steingrimsdottir ...
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Jacobsen, Rikke ...
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Lie, Rolv T.
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Djurovic, Srdjan
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Alfredsson, Lars
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Lopez de Lapuent ...
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Brunak, Soren
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Melsted, Pall
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Halldorsson, Bja ...
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Saemundsdottir, ...
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Magnusson, Olafu ...
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Padyukov, Leonid
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Banasik, Karina
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Rafnar, Thorunn
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Askling, Johan
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Klareskog, Lars
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Pedersen, Ole Bi ...
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Masson, Gisli
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Havdahl, Alexand ...
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Nilsson, Bjorn
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Andreassen, Ole ...
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Daly, Mark
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Ostrowski, Sisse ...
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Jonsdottir, Ingi ...
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Holm, Hilma
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Helgason, Agnar
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Thorsteinsdottir ...
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Stefansson, Kari
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Gudbjartsson, Da ...
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