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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. / 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 M.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O.; Tragante, Vinicius; Ferkingstad, Egil; Jonsson, Hakon; Gudjonsson, Sigurjon A.; Beyter, Doruk; Moore, Kristjan H.S.; Thordardottir, Helga B.; Kristmundsdottir, Snaedis; 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.; Selbaek, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Saevarsdottir, Saedis; Olsson, Tomas; Nielsen, Kaspar Rene; Hansen, Thomas Folkmann; Brunak, Søren; Jacobsen, Rikke Louise; Brunak, Soren; Banasik, Karina; Askling, Johan; Pedersen, Ole Birger; Ostrowski, Sisse Rye; DBDS Genomic Consortium.
In:
Nature Communications, Vol. 14, 3453, 2023.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Oddsson, A, Sulem, P, Sveinbjornsson, G, Arnadottir, GA, Steinthorsdottir, V, Halldorsson, GH, Atlason, BA, Oskarsson, GR, Helgason, H
, Nielsen, HS, Westergaard, D, Karjalainen, JM, Katrinardottir, H, Fridriksdottir, R, Jensson, BO, Tragante, V, Ferkingstad, E, Jonsson, H, Gudjonsson, SA, Beyter, D, Moore, KHS, Thordardottir, HB, Kristmundsdottir, S, Stefansson, OA, Rantapää-Dahlqvist, S, Sonderby, IE
, Didriksen, M, Stridh, P, Haavik, J, Tryggvadottir, L, Frei, O, Walters, GB, Kockum, I
, Hjalgrim, H, Olafsdottir, TA, Selbaek, G, Nyegaard, M, Erikstrup, C, Brodersen, T, Saevarsdottir, S, Olsson, T, Nielsen, KR
, Hansen, TF, Brunak, S, Jacobsen, RL
, Brunak, S, Banasik, K, Askling, J
, Pedersen, OB, Ostrowski, SR & DBDS Genomic Consortium 2023, '
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality',
Nature Communications, vol. 14, 3453.
https://doi.org/10.1038/s41467-023-38951-2APA
Oddsson, A., Sulem, P., Sveinbjornsson, G., Arnadottir, G. A., Steinthorsdottir, V., Halldorsson, G. H., Atlason, B. A., Oskarsson, G. R., Helgason, H.
, Nielsen, H. S., Westergaard, D., Karjalainen, J. M., Katrinardottir, H., Fridriksdottir, R., Jensson, B. O., Tragante, V., Ferkingstad, E., Jonsson, H., Gudjonsson, S. A., ... DBDS Genomic Consortium (2023).
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Nature Communications,
14, [3453].
https://doi.org/10.1038/s41467-023-38951-2Vancouver
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH et al.
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Nature Communications. 2023;14. 3453.
https://doi.org/10.1038/s41467-023-38951-2Author
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 M. ; Katrinardottir, Hildigunnur ; Fridriksdottir, Run ; Jensson, Brynjar O. ; Tragante, Vinicius ; Ferkingstad, Egil ; Jonsson, Hakon ; Gudjonsson, Sigurjon A. ; Beyter, Doruk ; Moore, Kristjan H.S. ; Thordardottir, Helga B. ; Kristmundsdottir, Snaedis ; 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. ; Selbaek, Geir ; Nyegaard, Mette ; Erikstrup, Christian ; Brodersen, Thorsten ; Saevarsdottir, Saedis ; Olsson, Tomas ; Nielsen, Kaspar Rene ; Hansen, Thomas Folkmann ; Brunak, Søren ; Jacobsen, Rikke Louise ; Brunak, Soren ; Banasik, Karina ; Askling, Johan ; Pedersen, Ole Birger ; Ostrowski, Sisse Rye ; DBDS Genomic Consortium. / Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. In: Nature Communications. 2023 ; Vol. 14.
Bibtex
@article{9a71677a889b4f369813dd9436accd71,
title = "Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality",
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.",
author = "Asmundur Oddsson and Patrick Sulem and Gardar Sveinbjornsson and Arnadottir, {Gudny A.} and Valgerdur Steinthorsdottir and Halldorsson, {Gisli H.} and Atlason, {Bjarni A.} and Oskarsson, {Gudjon R.} and Hannes Helgason and Nielsen, {Henriette Svarre} and David Westergaard and Karjalainen, {Juha M.} and Hildigunnur Katrinardottir and Run Fridriksdottir and Jensson, {Brynjar O.} and Vinicius Tragante and Egil Ferkingstad and Hakon Jonsson and Gudjonsson, {Sigurjon A.} and Doruk Beyter and Moore, {Kristjan H.S.} and Thordardottir, {Helga B.} and Snaedis Kristmundsdottir and Stefansson, {Olafur A.} and Solbritt Rantap{\"a}{\"a}-Dahlqvist and Sonderby, {Ida Elken} and Maria Didriksen and Pernilla Stridh and Jan Haavik and Laufey Tryggvadottir and Oleksandr Frei and Walters, {G. Bragi} and Ingrid Kockum and Henrik Hjalgrim and Olafsdottir, {Thorunn A.} and Geir Selbaek and Mette Nyegaard and Christian Erikstrup and Thorsten Brodersen and Saedis Saevarsdottir and Tomas Olsson and Nielsen, {Kaspar Rene} and Hansen, {Thomas Folkmann} and S{\o}ren Brunak and Jacobsen, {Rikke Louise} and Soren Brunak and Karina Banasik and Johan Askling and Pedersen, {Ole Birger} and Ostrowski, {Sisse Rye} and {DBDS Genomic Consortium}",
note = "Publisher Copyright: {\textcopyright} 2023, The Author(s).",
year = "2023",
doi = "10.1038/s41467-023-38951-2",
language = "English",
volume = "14",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
AU - Oddsson, Asmundur
AU - Sulem, Patrick
AU - Sveinbjornsson, Gardar
AU - Arnadottir, Gudny A.
AU - Steinthorsdottir, Valgerdur
AU - Halldorsson, Gisli H.
AU - Atlason, Bjarni A.
AU - Oskarsson, Gudjon R.
AU - Helgason, Hannes
AU - Nielsen, Henriette Svarre
AU - Westergaard, David
AU - Karjalainen, Juha M.
AU - Katrinardottir, Hildigunnur
AU - Fridriksdottir, Run
AU - Jensson, Brynjar O.
AU - Tragante, Vinicius
AU - Ferkingstad, Egil
AU - Jonsson, Hakon
AU - Gudjonsson, Sigurjon A.
AU - Beyter, Doruk
AU - Moore, Kristjan H.S.
AU - Thordardottir, Helga B.
AU - Kristmundsdottir, Snaedis
AU - Stefansson, Olafur A.
AU - Rantapää-Dahlqvist, Solbritt
AU - Sonderby, Ida Elken
AU - Didriksen, Maria
AU - Stridh, Pernilla
AU - Haavik, Jan
AU - Tryggvadottir, Laufey
AU - Frei, Oleksandr
AU - Walters, G. Bragi
AU - Kockum, Ingrid
AU - Hjalgrim, Henrik
AU - Olafsdottir, Thorunn A.
AU - Selbaek, Geir
AU - Nyegaard, Mette
AU - Erikstrup, Christian
AU - Brodersen, Thorsten
AU - Saevarsdottir, Saedis
AU - Olsson, Tomas
AU - Nielsen, Kaspar Rene
AU - Hansen, Thomas Folkmann
AU - Brunak, Søren
AU - Jacobsen, Rikke Louise
AU - Brunak, Soren
AU - Banasik, Karina
AU - Askling, Johan
AU - Pedersen, Ole Birger
AU - Ostrowski, Sisse Rye
AU - DBDS Genomic Consortium
N1 - Publisher Copyright:
© 2023, The Author(s).
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
U2 - 10.1038/s41467-023-38951-2
DO - 10.1038/s41467-023-38951-2
M3 - Journal article
C2 - 37301908
AN - SCOPUS:85161942886
VL - 14
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 3453
ER -
