Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
dc.date.accessioned | 2023-08-11T17:27:03Z | |
dc.date.available | 2023-08-11T17:27:03Z | |
dc.date.created | 2023-06-14T10:45:36Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Oddsson, Asmundur Sulem, Patrick Sveinbjornsson, Gardar Arnadottir, Gudny A. Steinthorsdottir, Valgerdur Halldorsson, Gisli H. Atlason, Bjarni A. Oskarsson, Gudjon R. Helgason, Hannes Nielsen, Henriette Svarre Westergaard, David Karjalainen, Juha Katrinardottir, Hildigunnur Fridriksdottir, Run Jensson, Brynjar O. Tragante, Vinicius Ferkingstad, Egil Jónsson, Hákon Gudjonsson, Sigurjon A. Beyter, Doruk Moore, Kristjan H.S. Thordardottir, Helga B. Kristmundsdottir, Snædis Stefansson, Olafur A. Rantapää Dahlqvist, Solbritt Sonderby, Ida Elken Didriksen, Maria Stridh, Pernilla Haavik, Jan Tryggvadottir, Laufey Frei, Oleksandr Walters, G. Bragi Kockum, Ingrid Hjalgrim, Henrik Olafsdottir, Thorunn A Selbæk, Geir Nyegaard, Mette Erikstrup, Christian Brodersen, Thorsten Sævarsdottir, Sædis Olsson, Tomas Nielsen, Kaspar Rene Haraldsson, Àsgeir Bruun, Mie Topholm Hansen, Thomas Folkmann Steingrimsdottir, Thora Jacobsen, Rikke Louise Lie, Rolv T. Djurovic, Srdjan Alfredsson, Lars Portilla, A.L. Brunak, Søren Havdahl, Alexandra Andreassen, Ole . Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. Nature Communications. 2023, 14(1) | |
dc.identifier.uri | http://hdl.handle.net/10852/103192 | |
dc.description.abstract | Abstract 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. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality | |
dc.title.alternative | ENEngelskEnglishDeficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality | |
dc.type | Journal article | |
dc.creator.author | Oddsson, Asmundur | |
dc.creator.author | Sulem, Patrick | |
dc.creator.author | Sveinbjornsson, Gardar | |
dc.creator.author | Arnadottir, Gudny A. | |
dc.creator.author | Steinthorsdottir, Valgerdur | |
dc.creator.author | Halldorsson, Gisli H. | |
dc.creator.author | Atlason, Bjarni A. | |
dc.creator.author | Oskarsson, Gudjon R. | |
dc.creator.author | Helgason, Hannes | |
dc.creator.author | Nielsen, Henriette Svarre | |
dc.creator.author | Westergaard, David | |
dc.creator.author | Karjalainen, Juha | |
dc.creator.author | Katrinardottir, Hildigunnur | |
dc.creator.author | Fridriksdottir, Run | |
dc.creator.author | Jensson, Brynjar O. | |
dc.creator.author | Tragante, Vinicius | |
dc.creator.author | Ferkingstad, Egil | |
dc.creator.author | Jónsson, Hákon | |
dc.creator.author | Gudjonsson, Sigurjon A. | |
dc.creator.author | Beyter, Doruk | |
dc.creator.author | Moore, Kristjan H.S. | |
dc.creator.author | Thordardottir, Helga B. | |
dc.creator.author | Kristmundsdottir, Snædis | |
dc.creator.author | Stefansson, Olafur A. | |
dc.creator.author | Rantapää Dahlqvist, Solbritt | |
dc.creator.author | Sonderby, Ida Elken | |
dc.creator.author | Didriksen, Maria | |
dc.creator.author | Stridh, Pernilla | |
dc.creator.author | Haavik, Jan | |
dc.creator.author | Tryggvadottir, Laufey | |
dc.creator.author | Frei, Oleksandr | |
dc.creator.author | Walters, G. Bragi | |
dc.creator.author | Kockum, Ingrid | |
dc.creator.author | Hjalgrim, Henrik | |
dc.creator.author | Olafsdottir, Thorunn A | |
dc.creator.author | Selbæk, Geir | |
dc.creator.author | Nyegaard, Mette | |
dc.creator.author | Erikstrup, Christian | |
dc.creator.author | Brodersen, Thorsten | |
dc.creator.author | Sævarsdottir, Sædis | |
dc.creator.author | Olsson, Tomas | |
dc.creator.author | Nielsen, Kaspar Rene | |
dc.creator.author | Haraldsson, Àsgeir | |
dc.creator.author | Bruun, Mie Topholm | |
dc.creator.author | Hansen, Thomas Folkmann | |
dc.creator.author | Steingrimsdottir, Thora | |
dc.creator.author | Jacobsen, Rikke Louise | |
dc.creator.author | Lie, Rolv T. | |
dc.creator.author | Djurovic, Srdjan | |
dc.creator.author | Alfredsson, Lars | |
dc.creator.author | Portilla, A.L. | |
dc.creator.author | Brunak, Søren | |
dc.creator.author | Havdahl, Alexandra | |
dc.creator.author | Andreassen, Ole | |
cristin.unitcode | 185,53,10,70 | |
cristin.unitname | NORMENT part UiO | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2154367 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=14&rft.spage=&rft.date=2023 | |
dc.identifier.jtitle | Nature Communications | |
dc.identifier.volume | 14 | |
dc.identifier.issue | 1 | |
dc.identifier.doi | https://doi.org/10.1038/s41467-023-38951-2 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2041-1723 | |
dc.type.version | PublishedVersion | |
cristin.articleid | 3453 |
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