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

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Oddsson, AsmundurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland (författare)

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

Artikel/kapitelEngelska2023

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Springer Nature,2023
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LIBRIS-ID:oai:DiVA.org:umu-211785
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-211785URI
https://doi.org/10.1038/s41467-023-38951-2DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:153086021URI

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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
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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Sulem, PatrickdeCODE genetics/Amgen, Inc., Reykjavik, Iceland (författare)
Sveinbjornsson, GardardeCODE genetics/Amgen, Inc., Reykjavik, Iceland (författare)
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Steinthorsdottir, ValgerdurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland (författare)
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Westergaard, DavidDeptartment 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 (författare)
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Thordardottir, Helga B.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland (författare)
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Gudbjartsson, Daniel F.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland (författare)
deCODE genetics/Amgen, Inc., Reykjavik, IcelanddeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland (creator_code:org_t)

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Ingår i:Nature Communications: Springer Nature14:12041-1723

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