315 results on '"Gudjonsson, Sigurjon A"'
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2. Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
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Skuladottir, Astros Th., Tragante, Vinicius, Sveinbjornsson, Gardar, Helgason, Hannes, Sturluson, Arni, Bjornsdottir, Anna, Jonsson, Palmi, Palmadottir, Vala, Sveinsson, Olafur A., Jensson, Brynjar O., Gudjonsson, Sigurjon A., Ivarsdottir, Erna V., Gisladottir, Rosa S., Gunnarsson, Arni F., Walters, G. Bragi, Jonsdottir, Gudrun A., Thorgeirsson, Thorgeir E., Bjornsdottir, Gyda, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Hreinn, and Stefansson, Kari
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- 2024
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3. Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
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Saevarsdottir, Saedis, Bjarnadottir, Kristbjörg, Markusson, Thorsteinn, Berglund, Jonas, Olafsdottir, Thorunn A., Halldorsson, Gisli H., Rutsdottir, Gudrun, Gunnarsdottir, Kristbjorg, Arnthorsson, Asgeir Orn, Lund, Sigrun H., Stefansdottir, Lilja, Gudmundsson, Julius, Johannesson, Ari J., Sturluson, Arni, Oddsson, Asmundur, Halldorsson, Bjarni, Ludviksson, Björn R., Ferkingstad, Egil, Ivarsdottir, Erna V., Sveinbjornsson, Gardar, Grondal, Gerdur, Masson, Gisli, Eldjarn, Grimur Hjorleifsson, Thorisson, Gudmundur A., Kristjansdottir, Katla, Knowlton, Kirk U., Moore, Kristjan H. S., Gudjonsson, Sigurjon A., Rognvaldsson, Solvi, Knight, Stacey, Nadauld, Lincoln D., Holm, Hilma, Magnusson, Olafur T., Sulem, Patrick, Gudbjartsson, Daniel F., Rafnar, Thorunn, Thorleifsson, Gudmar, Melsted, Pall, Norddahl, Gudmundur L., Jonsdottir, Ingileif, and Stefansson, Kari
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- 2024
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4. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
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Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, and Sulem, Patrick
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- 2024
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5. Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
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Stacey, Simon N., Zink, Florian, Halldorsson, Gisli H., Stefansdottir, Lilja, Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Hjörleifsson, Grimur, Eiriksdottir, Thjodbjorg, Helgadottir, Anna, Björnsdottir, Gyda, Thorgeirsson, Thorgeir E., Olafsdottir, Thorunn A., Jonsdottir, Ingileif, Gretarsdottir, Solveig, Tragante, Vinicius, Magnusson, Magnus K., Jonsson, Hakon, Gudmundsson, Julius, Olafsson, Sigurgeir, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Helgason, Agnar, Thorsteinsdottir, Unnur, Tryggvadottir, Laufey, Rafnar, Thorunn, Melsted, Pall, Ulfarsson, Magnus Ö., Vidarsson, Brynjar, Thorleifsson, Gudmar, and Stefansson, Kari
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- 2023
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6. Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
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Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th., Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari
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- 2024
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7. Large-scale plasma proteomics comparisons through genetics and disease associations
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Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th., Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari
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- 2023
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8. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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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, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.
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- 2023
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9. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
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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, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.
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- 2023
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10. The sequences of 150,119 genomes in the UK Biobank
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Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, and Stefansson, Kari
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- 2022
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11. Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
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Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., and Stefansson, Kari
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- 2022
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12. Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
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Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., and Stefansson, Kari
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- 2022
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13. Large-scale integration of the plasma proteome with genetics and disease
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Ferkingstad, Egil, Sulem, Patrick, Atlason, Bjarni A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Styrmisdottir, Edda L., Gunnarsdottir, Kristbjorg, Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Bjarni V., Jensson, Brynjar O., Zink, Florian, Halldorsson, Gisli H., Masson, Gisli, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Juliusson, Kristinn, Magnusson, Magnus K., Magnusson, Olafur Th., Fridriksdottir, Run, Saevarsdottir, Saedis, Gudjonsson, Sigurjon A., Stacey, Simon N., Rognvaldsson, Solvi, Eiriksdottir, Thjodbjorg, Olafsdottir, Thorunn A., Steinthorsdottir, Valgerdur, Tragante, Vinicius, Ulfarsson, Magnus O., Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Lund, Sigrun H., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2021
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14. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
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Runolfsdottir, Hrafnhildur L., Sayer, John A., Indridason, Olafur S., Edvardsson, Vidar O., Jensson, Brynjar O., Arnadottir, Gudny A., Gudjonsson, Sigurjon A., Fridriksdottir, Run, Katrinardottir, Hildigunnur, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, and Palsson, Runolfur
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- 2021
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15. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
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Beyter, Doruk, Ingimundardottir, Helga, Oddsson, Asmundur, Eggertsson, Hannes P., Bjornsson, Eythor, Jonsson, Hakon, Atlason, Bjarni A., Kristmundsdottir, Snaedis, Mehringer, Svenja, Hardarson, Marteinn T., Gudjonsson, Sigurjon A., Magnusdottir, Droplaug N., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Kristjansson, Ragnar P., Sverrisson, Sverrir T., Holley, Guillaume, Palsson, Gunnar, Stefansson, Olafur A., Eyjolfsson, Gudmundur, Olafsson, Isleifur, Sigurdardottir, Olof, Torfason, Bjarni, Masson, Gisli, Helgason, Agnar, Thorsteinsdottir, Unnur, Holm, Hilma, Gudbjartsson, Daniel F., Sulem, Patrick, Magnusson, Olafur T., Halldorsson, Bjarni V., and Stefansson, Kari
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- 2021
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16. Estimating robustness of the tileShuffle method with repeated probes
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Lund, Sigrun Helga, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Gudmundsson, Julius, Gudbjartsson, Daniel Fannar, Rafnar, Thorunn, Stefansson, Kari, and Stefansson, Gunnar
- Subjects
Statistics - Applications ,Quantitative Biology - Quantitative Methods - Abstract
In this paper the TileShuffle method is evaluated as a search method for candidate lncRNAs at 8q24.2. The method is run on three microarrays. Microarrays which all contained the same sample and repeated copies of tiled probes. This allows the coherence of the selection method within and between microarrays to be estimated by Monte Carlo simulations on the repeated probes.
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- 2014
17. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
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Klemenzdottir, Elin Ola, primary, Arnadottir, Gudny Anna, additional, Jensson, Brynjar Orn, additional, Jonasdottir, Adalbjorg, additional, Katrinardottir, Hildigunnur, additional, Fridriksdottir, Run, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gudjonsson, Sigurjon Axel, additional, Jonsson, Jon Johannes, additional, Stefansdottir, Vigdis, additional, Danielsen, Ragnar, additional, Palsdottir, Astridur, additional, Jonsson, Hakon, additional, Helgason, Agnar, additional, Magnusson, Olafur Thor, additional, Thorsteinsdottir, Unnur, additional, Bjornsson, Hans Tomas, additional, Stefansson, Kari, additional, and Sulem, Patrick, additional
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- 2023
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18. Multiple transmissions of de novo mutations in families
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Jónsson, Hákon, Sulem, Patrick, Arnadottir, Gudny A., Pálsson, Gunnar, Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Zink, Florian, Kehr, Birte, Hjorleifsson, Kristjan E., Jensson, Brynjar Ö., Jonsdottir, Ingileif, Marelsson, Sigurdur Einar, Gudjonsson, Sigurjon Axel, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stacey, Simon N., Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., and Stefansson, Kari
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- 2018
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19. Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
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Zink, Florian, Stacey, Simon N., Norddahl, Gudmundur L., Frigge, Michael L., Magnusson, Olafur T., Jonsdottir, Ingileif, Thorgeirsson, Thorgeir E., Sigurdsson, Asgeir, Gudjonsson, Sigurjon A., Gudmundsson, Julius, Jonasson, Jon G., Tryggvadottir, Laufey, Jonsson, Thorvaldur, Helgason, Agnar, Gylfason, Arnaldur, Sulem, Patrick, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Masson, Gisli, Kong, Augustine, and Stefansson, Kari
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- 2017
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20. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
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Zink, Florian, Magnusdottir, Droplaug N., Magnusson, Olafur T., Walker, Nicolas J., Morris, Tiffany J., Sigurdsson, Asgeir, Halldorsson, Gisli H., Gudjonsson, Sigurjon A., Melsted, Pall, Ingimundardottir, Helga, Kristmundsdottir, Snædis, Alexandersson, Kristjan F., Helgadottir, Anna, Gudmundsson, Julius, Rafnar, Thorunn, Jonsdottir, Ingileif, Holm, Hilma, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Olafsson, Isleifur, Masson, Gisli, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Halldorsson, Bjarni V., Stacey, Simon N., and Stefansson, Kari
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- 2018
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21. Data from Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
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Olafsdottir, Thorhildur, primary, Stacey, Simon N., primary, Sveinbjornsson, Gardar, primary, Thorleifsson, Gudmar, primary, Norland, Kristjan, primary, Sigurgeirsson, Bardur, primary, Thorisdottir, Kristin, primary, Kristjansson, Arni Kjalar, primary, Tryggvadottir, Laufey, primary, Sarin, Kavita Y., primary, Benediktsson, Rafn, primary, Jonasson, Jon G., primary, Sigurdsson, Asgeir, primary, Jonasdottir, Aslaug, primary, Kristmundsdottir, Snaedis, primary, Jonsson, Hakon, primary, Gylfason, Arnaldur, primary, Oddsson, Asmundur, primary, Fridriksdottir, Run, primary, Gudjonsson, Sigurjon A., primary, Zink, Florian, primary, Lund, Sigrun H., primary, Rognvaldsson, Solvi, primary, Melsted, Pall, primary, Steinthorsdottir, Valgerdur, primary, Gudmundsson, Julius, primary, Mikaelsdottir, Evgenia, primary, Olason, Pall I., primary, Stefansdottir, Lilja, primary, Eggertsson, Hannes P., primary, Halldorsson, Bjarni V., primary, Thorsteinsdottir, Unnur, primary, Agustsson, Tomas T., primary, Olafsson, Karl, primary, Olafsson, Jon H., primary, Sulem, Patrick, primary, Rafnar, Thorunn, primary, Gudbjartsson, Daniel F., primary, and Stefansson, Kari, primary
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- 2023
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22. A population-based survey of FBN1variants in Iceland reveals underdiagnosis of Marfan syndrome
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Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, and Sulem, Patrick
- Abstract
Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1gene. To explore causes of MFS and the prevalence of the disease in Iceland we collected information from all living individuals with a clinical diagnosis of MFS in Iceland (n= 32) and performed whole-genome sequencing of those who did not have a confirmed genetic diagnosis (27/32). Moreover, to assess a potential underdiagnosis of MFS in Iceland we attempted a genotype-based approach to identify individuals with MFS. We interrogated deCODE genetics’ database of 35,712 whole-genome sequenced individuals to search for rare sequence variants in FBN1. Overall, we identified 15 pathogenic or likely pathogenic variants in FBN1in 44 individuals, only 22 of whom were previously diagnosed with MFS. The most common of these variants, NM_000138.4:c.8038 C > T p.(Arg2680Cys), is present in a multi-generational pedigree, and was found to stem from a single forefather born around 1840. The p.(Arg2680Cys) variant associates with a form of MFS that seems to have an enrichment of abdominal aortic aneurysm, suggesting that this may be a particularly common feature of p.(Arg2680Cys)-associated MFS. Based on these combined genetic and clinical data, we show that MFS prevalence in Iceland could be as high as 1/6,600 in Iceland, compared to 1/10,000 based on clinical diagnosis alone, which indicates underdiagnosis of this actionable genetic disorder.
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- 2024
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23. Thirty novel sequence variants impacting human intracranial volume
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Nawaz, Muhammad Sulaman, primary, Einarsson, Gudmundur, additional, Bustamante, Mariana, additional, Gisladottir, Rosa S, additional, Walters, G Bragi, additional, Jonsdottir, Gudrun A, additional, Skuladottir, Astros Th, additional, Bjornsdottir, Gyda, additional, Magnusson, Sigurdur H, additional, Asbjornsdottir, Bergrun, additional, Unnsteinsdottir, Unnur, additional, Sigurdsson, Engilbert, additional, Jonsson, Palmi V, additional, Palmadottir, Vala Kolbrun, additional, Gudjonsson, Sigurjon A, additional, Halldorsson, Gisli H, additional, Ferkingstad, Egil, additional, Jonsdottir, Ingileif, additional, Thorleifsson, Gudmar, additional, Holm, Hilma, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Stefansson, Hreinn, additional, Thorgeirsson, Thorgeir E, additional, Ulfarsson, Magnus O, additional, and Stefansson, Kari, additional
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- 2022
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24. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndrome
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Sulem, Patrick, primary, Arnadottir, Gudny, additional, Jensson, Brynjar, additional, Jonasdottir, Adalbjorg, additional, Katrinardottir, Hildigunnur, additional, Fridriksdottir, Run, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gudjonsson, Sigurjon, additional, Jonsson, Jon, additional, Stefansdottir, Vigdis, additional, Danielsen, Ragnar, additional, Palsdottir, Astridur, additional, Jonsson, Hakon, additional, Helgason, Agnar, additional, Magnusson, Olafur, additional, Thorsteinsdottir, Unnur, additional, Björnsson, Hans, additional, Stefansson, Kari, additional, and Klemenzdottir, Elin, additional
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- 2022
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25. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
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Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th., Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, and Stefansson, Kari
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- 2018
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26. Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
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Saevarsdottir, Saedis, Stefansdottir, Lilja, Sulem, Patrick, Thorleifsson, Gudmar, Ferkingstad, Egil, Rutsdottir, Gudrun, Glintborg, Bente, Westerlind, Helga, Grondal, Gerdur, Loft, Isabella C., Sorensen, Signe Bek, Lie, Benedicte A., Brink, Mikael, Arlestig, Lisbeth, Arnthorsson, Asgeir Orn, Baecklund, Eva, Banasik, Karina, Bank, Steffen, Bjorkman, Lena I, Ellingsen, Torkell, Erikstrup, Christian, Frei, Oleksandr, Gjertsson, Inger, Gudbjartsson, Daniel F., Gudjonsson, Sigurjon A., Halldorsson, Gisli H., Hendricks, Oliver, Hillert, Jan, Hogdall, Estrid, Jacobsen, Soren, Jensen, Dorte Vendelbo, Jonsson, Helgi, Kastbom, Alf, Kockum, Ingrid, Kristensen, Salome, Kristjansdottir, Helga, Larsen, Margit H., Linauskas, Asta, Hauge, Ellen-Margrethe, Loft, Anne G., Ludviksson, Bjorn R., Lund, Sigrun H., Markusson, Thorsteinn, Masson, Gisli, Melsted, Pall, Moore, Kristjan H. S., Munk, Heidi, Nielsen, Kaspar R., Norddahl, Gudmundur L., Oddsson, Asmundur, Olafsdottir, Thorunn A., Olason, Pall I, Olsson, Tomas, Ostrowski, Sisse Rye, Horslev-Petersen, Kim, Rognvaldsson, Solvi, Sanner, Helga, Silberberg, Gilad N., Stefansson, Hreinn, Sorensen, Erik, Sorensen, Inge J., Turesson, Carl, Bergman, Thomas, Alfredsson, Lars, Kvien, Tore K., Brunak, Soren, Steinsson, Kristjan, Andersen, Vibeke, Andreassen, Ole A., Rantapaa-Dahlqvist, Solbritt, Hetland, Merete Lund, Klareskog, Lars, Askling, Johan, Padyukov, Leonid, Pedersen, Ole Bv, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari, Saevarsdottir, Saedis, Stefansdottir, Lilja, Sulem, Patrick, Thorleifsson, Gudmar, Ferkingstad, Egil, Rutsdottir, Gudrun, Glintborg, Bente, Westerlind, Helga, Grondal, Gerdur, Loft, Isabella C., Sorensen, Signe Bek, Lie, Benedicte A., Brink, Mikael, Arlestig, Lisbeth, Arnthorsson, Asgeir Orn, Baecklund, Eva, Banasik, Karina, Bank, Steffen, Bjorkman, Lena I, Ellingsen, Torkell, Erikstrup, Christian, Frei, Oleksandr, Gjertsson, Inger, Gudbjartsson, Daniel F., Gudjonsson, Sigurjon A., Halldorsson, Gisli H., Hendricks, Oliver, Hillert, Jan, Hogdall, Estrid, Jacobsen, Soren, Jensen, Dorte Vendelbo, Jonsson, Helgi, Kastbom, Alf, Kockum, Ingrid, Kristensen, Salome, Kristjansdottir, Helga, Larsen, Margit H., Linauskas, Asta, Hauge, Ellen-Margrethe, Loft, Anne G., Ludviksson, Bjorn R., Lund, Sigrun H., Markusson, Thorsteinn, Masson, Gisli, Melsted, Pall, Moore, Kristjan H. S., Munk, Heidi, Nielsen, Kaspar R., Norddahl, Gudmundur L., Oddsson, Asmundur, Olafsdottir, Thorunn A., Olason, Pall I, Olsson, Tomas, Ostrowski, Sisse Rye, Horslev-Petersen, Kim, Rognvaldsson, Solvi, Sanner, Helga, Silberberg, Gilad N., Stefansson, Hreinn, Sorensen, Erik, Sorensen, Inge J., Turesson, Carl, Bergman, Thomas, Alfredsson, Lars, Kvien, Tore K., Brunak, Soren, Steinsson, Kristjan, Andersen, Vibeke, Andreassen, Ole A., Rantapaa-Dahlqvist, Solbritt, Hetland, Merete Lund, Klareskog, Lars, Askling, Johan, Padyukov, Leonid, Pedersen, Ole Bv, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari
- Abstract
Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) and seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) and similar to 1 million controls from Northwestern Europe. We searched for causal genes outside the HLA-locus through effect on coding, mRNA expression in several tissues and/or levels of plasma proteins (SomaScan) and did network analysis (Qiagen). Results We found 25 sequence variants for RA overall, 33 for seropositive and 2 for seronegative RA, altogether 37 sequence variants at 34 non-HLA loci, of which 15 are novel. Genomic, transcriptomic and proteomic analysis of these yielded 25 causal genes in seropositive RA and additional two overall. Most encode proteins in the network of interferon-alpha/beta and IL-12/23 that signal through the JAK/STAT-pathway. Highlighting those with largest effect on seropositive RA, a rare missense variant in STAT4 (rs140675301-A) that is independent of reported non-coding STAT4-variants, increases the risk of seropositive RA 2.27-fold (p=2.1x10(-9)), more than the rs2476601-A missense variant in PTPN22 (OR=1.59, p=1.3x10(-160)). STAT4 rs140675301-A replaces hydrophilic glutamic acid with hydrophobic valine (Glu128Val) in a conserved, surface-exposed loop. A stop-mutation (rs76428106-C) in FLT3 increases seropositive RA risk (OR=1.35, p=6.6x10(-11)). Independent missense variants in TYK2 (rs34536443-C, rs12720356-C, rs35018800-A, latter two novel) associate with decreased risk of seropositive RA (ORs=0.63-0.87, p=10(-9)-10(-27)) and decreased plasma levels of interferon-alpha/beta receptor 1 that signals through TYK2/JAK1/STAT4. Conclusion Sequence variants pointing to causal genes in the JAK/STAT pathway have largest effect on seropositive RA, while associations with seronegative RA remain scarce., Funding Agencies|NORDFORSK [90825]; Swedish Research Council [2018-02803]; Swedish innovation Agency (Vinnova); Innovationsfonden; The Research Council of Norway; Region Stockholm-Karolinska Institutet; Region Vasterbotten (ALF); Danish Rheumatism Association [R194-A6956, A1923, A3037, A3570]; Swedish Brain Foundation; Nils and Bibbi Jensens Foundation; Knut and Alice Wallenberg Foundation; Margaretha af Ugglas Foundation; South-Eastern Heath Region of Norway; Health Research Fund of Central Denmark Region; Region of Southern Denmark; A.P. Moller Foundation for the Advancement of Medical Science; Colitis-Crohn Foreningen; Novo Nordisk Foundation [NNF15OC0016932]; Aase og Ejnar Danielsens Fond; Beckett-Fonden; Augustinus Fonden; Knud and Edith Eriksens Mindefond; Laege Sofus Carl Emil Friis and Hustru Olga Doris Friis Legat; Psoriasis Forskningsfonden; University of Aarhus; Region of Southern Denmarks PhD Fund [12/7725]; Department of Rheumatology, Frederiksberg Hospital; Research Council of Norway [229624, 223273]; South East and Western Norway Health Authorities; ERC AdG project SELECTionPREDISPOSED; Stiftelsen Kristian Gerhard Jebsen; Trond Mohn Foundation; Novo Nordisk Foundation; University of Bergen
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- 2022
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27. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., and Stefansson, Kari
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- 2017
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28. Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate
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Kong, Augustine, Thorleifsson, Gudmar, Stefansson, Hreinn, Masson, Gisli, Helgason, Agnar, Gudbjartsson, Daniel F., Jonsdottir, Gudrun M., Gudjonsson, Sigurjon A., Sverrisson, Sverrir, Thorlacius, Theodora, Jonasdottir, Aslaug, Hardarson, Gudmundur A., Palsson, Stefan T., Frigge, Michael L., Gulcher, Jeffrey R., Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2008
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29. Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease
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Hjorleifsson Eldjarn, Grimur, primary, Ferkingstad, Egil, additional, Lund, Sigrun H., additional, Helgason, Hannes, additional, Magnusson, Olafur Th., additional, Olafsdottir, Thorunn A., additional, Halldorsson, Bjarni V., additional, Olason, Pall I., additional, Zink, Florian, additional, Gudjonsson, Sigurjon A., additional, Sveinbjornsson, Gardar, additional, Magnusson, Magnus I., additional, Helgason, Agnar, additional, Oddsson, Asmundur, additional, Halldorsson, Gisli H., additional, Magnusson, Magnus K., additional, Saevarsdottir, Saedis, additional, Eiriksdottir, Thjodbjorg, additional, Masson, Gisli, additional, Stefansson, Hreinn, additional, Jonsdottir, Ingileif, additional, Holm, Hilma, additional, Rafnar, Thorunn, additional, Melsted, Pall, additional, Saemundsdottir, Jona, additional, Norddahl, Gudmundur L., additional, Thorleifsson, Gudmar, additional, Ulfarsson, Magnus O., additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
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- 2022
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30. Rate of de novo mutations and the importance of father’s age to disease risk
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Kong, Augustine, Frigge, Michael L., Masson, Gisli, Besenbacher, Soren, Sulem, Patrick, Magnusson, Gisli, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Wong, Wendy S. W., Sigurdsson, Gunnar, Walters, G. Bragi, Steinberg, Stacy, Helgason, Hannes, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Helgason, Agnar, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2012
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31. Fine-scale recombination rate differences between sexes, populations and individuals
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Kong, Augustine, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Masson, Gisli, Sigurdsson, Asgeir, Jonasdottir, Aslaug, Walters, G. Bragi, Jonasdottir, Adalbjorg, Gylfason, Arnaldur, Kristinsson, Kari Th., Gudjonsson, Sigurjon A., Frigge, Michael L., Helgason, Agnar, Thorsteinsdottir, Unnur, and Stefansson, Kari
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Meiosis -- Genetic aspects -- Research ,Population genetics -- Research -- Genetic aspects ,Single nucleotide polymorphisms -- Identification and classification -- Research -- Genetic aspects ,Genetic recombination -- Research -- Genetic aspects ,Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from high-density single-nucleotide polymorphism (SNP) data using linkage disequilibrium (LD) patterns that capture historical recombination events (1,2). The use of these maps has been demonstrated by the identification of recombination hotspots (2) and associated motifs (3), and the discovery that the PRDM9 gene affects the proportion of recombinations occurring at hots-pots (4-6). However, these maps provide no information about individual or sex differences. Moreover, locus-specific demographic factors like natural selection (7) can bias LD-based estimates of recombination rate. Existing genetic maps based on family data avoid these shortcomings (8), but their resolution is limited by relatively few meioses and a low density of markers. Here we used genome-wide SNP data from 15,257 parent-offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb). Comparing male and female maps reveals that about 15% of hotspots in one sex are specific to that sex. Although male recombinations result in more shuffling of exons within genes, female recombinations generate more new combinations of nearby genes. We discover novel associations between recombination characteristics of individuals and variants in the PRDM9gene and we identify new recombination hotspots. Comparisons of our maps with two LD-based maps inferred from data of HapMap populations of Utah residents with ancestry from northern and western Europe (CEU) and Yoruba in Ibadan, Nigeria (YRI) reveal population differences previously masked by noise and map differences at regions previously described as targets of natural selection., To perform a large, family-based recombination study, one challenge is to phase the genotypes of the parents when the grandparents are not genotyped. One solution is to use genotyped nuclear [...]
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- 2010
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32. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer
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Rafnar, Thorunn, Sulem, Patrick, Thorleifsson, Gudmar, Vermeulen, Sita H., Helgason, Hannes, Saemundsdottir, Jona, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Stacey, Simon N., Gudmundsson, Julius, Johannsdottir, Hrefna, Alexiusdottir, Kristin, Petursdottir, Vigdis, Nikulasson, Sigfus, Geirsson, Gudmundur, Jonsson, Thorvaldur, Aben, Katja K.H., Grotenhuis, Anne J., Verhaegh, Gerald W., Dudek, Aleksandra M., Witjes, J. Alfred, van der Heijden, Antoine G., Vrieling, Alina, Galesloot, Tessel E., De Juan, Ana, Panadero, Angeles, Rivera, Fernando, Hurst, Carolyn, Bishop, D. Timothy, Sak, Sei C., Choudhury, Ananya, Teo, Mark T.W., Arici, Cecilia, Carta, Angela, Toninelli, Elena, de Verdier, Petra, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, van der Keur, Kirstin A., Lurkin, Irene, Goossens, Mieke, Kellen, Eliane, Guarrera, Simonetta, Russo, Alessia, Critelli, Rossana, Sacerdote, Carlotta, Vineis, Paolo, Krucker, Clémentine, Zeegers, Maurice P., Gerullis, Holger, Ovsiannikov, Daniel, Volkert, Frank, Hengstler, Jan G., Selinski, Silvia, Magnusson, Olafur T., Masson, Gisli, Kong, Augustine, Gudbjartsson, Daniel, Lindblom, Annika, Zwarthoff, Ellen, Porru, Stefano, Golka, Klaus, Buntinx, Frank, Matullo, Giuseppe, Kumar, Rajiv, Mayordomo, José I., Steineck, D. Gunnar, Kiltie, Anne E., Jonsson, Eirikur, Radvanyi, François, Knowles, Margaret A., Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., and Stefansson, Kari
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- 2014
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33. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma
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Stacey, Simon N., Sulem, Patrick, Gudbjartsson, Daniel F., Jonasdottir, Aslaug, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Masson, Gisli, Gudmundsson, Julius, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Thorisdottir, Kristin, Ragnarsson, Rafn, Fuentelsaz, Victoria, Corredera, Cristina, Grasa, Matilde, Planelles, Dolores, Sanmartin, Onofre, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Johannsdottir, Hrefna, Helgadottir, Hafdis T., Thorsteinsdottir, Unnur, Kong, Augustine, Vogel, Ulla, Kumar, Rajiv, Nagore, Eduardo, Mayordomo, José I., Rafnar, Thorunn, Olafsson, Jon H., and Stefansson, Kari
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- 2014
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34. Parental origin of sequence variants associated with complex diseases
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Kong, Augustine, Steinthorsdottir, Valgerdur, Masson, Gisli, Thorleifsson, Gudmar, Sulem, Patrick, Besenbacher, Soren, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Kristinsson, Kari Th., Jonasdottir, Adalbjorg, Frigge, Michael L., Gylfason, Arnaldur, Olason, Pall I., Gudjonsson, Sigurjon A., Sverrisson, Sverrir, Stacey, Simon N., Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Sigurdsson, Helgi, Jonsson, Thorvaldur, Benediktsson, Rafn, Olafsson, Jon H., Johannsson, Oskar Th., Hreidarsson, Astradur B., Sigurdsson, Gunnar, Ferguson-Smith, Anne C., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari
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Genes -- Physiological aspects -- Research -- Genetic aspects ,Single nucleotide polymorphisms -- Research -- Physiological aspects -- Genetic aspects ,Type 2 diabetes -- Genetic aspects -- Risk factors -- Research ,Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five--one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes--have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site., The effect of sequence variants on phenotypes may depend on parental origin. The most obvious scheme, although not the only one (1), is imprinting in which the effect is limited [...]
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- 2009
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35. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
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Olafsdottir, Thorhildur, primary, Stacey, Simon N., additional, Sveinbjornsson, Gardar, additional, Thorleifsson, Gudmar, additional, Norland, Kristjan, additional, Sigurgeirsson, Bardur, additional, Thorisdottir, Kristin, additional, Kristjansson, Arni Kjalar, additional, Tryggvadottir, Laufey, additional, Sarin, Kavita Y., additional, Benediktsson, Rafn, additional, Jonasson, Jon G., additional, Sigurdsson, Asgeir, additional, Jonasdottir, Aslaug, additional, Kristmundsdottir, Snaedis, additional, Jonsson, Hakon, additional, Gylfason, Arnaldur, additional, Oddsson, Asmundur, additional, Fridriksdottir, Run, additional, Gudjonsson, Sigurjon A., additional, Zink, Florian, additional, Lund, Sigrun H., additional, Rognvaldsson, Solvi, additional, Melsted, Pall, additional, Steinthorsdottir, Valgerdur, additional, Gudmundsson, Julius, additional, Mikaelsdottir, Evgenia, additional, Olason, Pall I., additional, Stefansdottir, Lilja, additional, Eggertsson, Hannes P., additional, Halldorsson, Bjarni V., additional, Thorsteinsdottir, Unnur, additional, Agustsson, Tomas T., additional, Olafsson, Karl, additional, Olafsson, Jon H., additional, Sulem, Patrick, additional, Rafnar, Thorunn, additional, Gudbjartsson, Daniel F., additional, and Stefansson, Kari, additional
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- 2021
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36. Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption
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Sulem, Patrick, Gudbjartsson, Daniel F., Geller, Frank, Prokopenko, Inga, Feenstra, Bjarke, Aben, Katja K.H., Franke, Barbara, den Heijer, Martin, Kovacs, Peter, Stumvoll, Michael, Mägi, Reedik, Yanek, Lisa R., Becker, Lewis C., Boyd, Heather A., Stacey, Simon N., Walters, G. Bragi, Jonasdottir, Adalbjorg, Thorleifsson, Gudmar, Holm, Hilma, Gudjonsson, Sigurjon A., Rafnar, Thorunn, Björnsdottir, Gyda, Becker, Diane M., Melbye, Mads, Kong, Augustine, Tönjes, Anke, Thorgeirsson, Thorgeir, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., and Stefansson, Kari
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- 2011
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37. Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease
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Beyter, Doruk, Ingimundardottir, Helga, Eggertsson, Hannes P., Bjornsson, Eythor, Kristmundsdottir, Snaedis, Mehringer, Svenja, Jonsson, Hakon, Hardarson, Marteinn T., Magnusdottir, Droplaug N., Kristjansson, Ragnar P., Gudjonsson, Sigurjon A., Sverrisson, Sverrir T., Holley, Guillaume, Eyjolfsson, Gudmundur, Olafsson, Isleifur, Sigurdardottir, Olof, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Magnusson, Olafur T., Halldorsson, Bjarni V., and Stefansson, Kari
- Abstract
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity. We generated LRS data on 1,817 Icelanders using Oxford Nanopore Technologies, and identified a median of 23,111 autosomal structural variants per individual (a median of 11,506 insertions and 11,576 deletions), spanning cumulatively a median of 9.9 Mb. We found that rare SVs are larger in size than common ones and are more likely to impact protein function. We discovered an association with a rare deletion of the first exon of PCSK9 . Carriers of this deletion have 0.93 mmol/L (1.36 sd) lower LDL cholesterol levels than the population average (p-value = 2.4·10 −22 ). We show that SVs can be accurately characterized at population scale using long read sequence data in a genomewide non-targeted fashion and how these variants impact disease.
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- 2019
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38. Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
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Beyter, Doruk, primary, Ingimundardottir, Helga, additional, Oddsson, Asmundur, additional, Eggertsson, Hannes P., additional, Bjornsson, Eythor, additional, Jonsson, Hakon, additional, Atlason, Bjarni A., additional, Kristmundsdottir, Snaedis, additional, Mehringer, Svenja, additional, Hardarson, Marteinn T., additional, Gudjonsson, Sigurjon A., additional, Magnusdottir, Droplaug N., additional, Jonasdottir, Aslaug, additional, Jonasdottir, Adalbjorg, additional, Kristjansson, Ragnar P., additional, Sverrisson, Sverrir T., additional, Holley, Guillaume, additional, Palsson, Gunnar, additional, Stefansson, Olafur A., additional, Eyjolfsson, Gudmundur, additional, Olafsson, Isleifur, additional, Sigurdardottir, Olof, additional, Torfason, Bjarni, additional, Masson, Gisli, additional, Helgason, Agnar, additional, Thorsteinsdottir, Unnur, additional, Holm, Hilma, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, Magnusson, Olafur T., additional, Halldorsson, Bjarni V., additional, and Stefansson, Kari, additional
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- 2019
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39. Characterizing mutagenic effects of recombination through a sequence-level genetic map
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Halldorsson, Bjarni V., primary, Palsson, Gunnar, additional, Stefansson, Olafur A., additional, Jonsson, Hakon, additional, Hardarson, Marteinn T., additional, Eggertsson, Hannes P., additional, Gunnarsson, Bjarni, additional, Oddsson, Asmundur, additional, Halldorsson, Gisli H., additional, Zink, Florian, additional, Gudjonsson, Sigurjon A., additional, Frigge, Michael L., additional, Thorleifsson, Gudmar, additional, Sigurdsson, Asgeir, additional, Stacey, Simon N., additional, Sulem, Patrick, additional, Masson, Gisli, additional, Helgason, Agnar, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional
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- 2019
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40. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
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Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
- Published
- 2018
41. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
- Author
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Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
- Published
- 2018
42. Data Descriptor: Whole genome characterization of sequence diversity of 15,220 Icelanders
- Author
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Jónsson, Hakon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Besenbacher, Soren, Frigge, Michael L., Stacey, Simon N., Magnusson, Olafur Th, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., and Stefansson, Kari
- Abstract
© The Author(s) 2017. Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide coverage of 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs and 7,940,790 indels. Calling de novo mutations (DNMs) is a formidable challenge given the high false positive rate in sequencing datasets relative to the mutation rate. Here we addressed this issue by using segregation of alleles in three-generation families. Using this transmission assay, we controlled the false positive rate and identified 108,778 high quality DNMs. Furthermore, we used our extended family structure and read pair tracing of DNMs to a panel of phased SNPs, to determine the parent of origin of 42,961 DNMs.
- Published
- 2017
43. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
- Author
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Gudmundsson, Julius, primary, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Agnarsson, Bjarni A., additional, Isaksson, Helgi J., additional, Stefansson, Olafur A., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Frigge, Michael L., additional, Stacey, Simon N., additional, Sulem, Patrick, additional, Halldorsson, Gisli H., additional, Tragante, Vinicius, additional, Holm, Hilma, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Jonsson, Thorvaldur, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Hilmarsson, Rafn, additional, Asselbergs, Folkert W., additional, Geirsson, Gudmundur, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional
- Published
- 2018
- Full Text
- View/download PDF
44. Recurrence of de novo mutations in families
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Jónsson, Hákon, primary, Sulem, Patrick, additional, Arnadottir, Gudny A., additional, Pálsson, Gunnar, additional, Eggertsson, Hannes P., additional, Kristmundsdottir, Snaedis, additional, Zink, Florian, additional, Kehr, Birte, additional, Hjorleifsson, Kristjan E., additional, Jensson, Brynjar Ö, additional, Jonsdottir, Ingileif, additional, Marelsson, Sigurdur Einar, additional, Gudjonsson, Sigurjon Axel, additional, Gylfason, Arnaldur, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Stacey, Simon N., additional, Magnusson, Olafur Th., additional, Thorsteinsdottir, Unnur, additional, Masson, Gisli, additional, Kong, Augustine, additional, Halldorsson, Bjarni V., additional, Helgason, Agnar, additional, Gudbjartsson, Daniel F., additional, and Stefansson, Kari, additional
- Published
- 2017
- Full Text
- View/download PDF
45. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
- Author
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Arnadottir, Gudny A., primary, Jensson, Brynjar O., additional, Marelsson, Sigurdur E., additional, Sulem, Gerald, additional, Oddsson, Asmundur, additional, Kristjansson, Ragnar P., additional, Benonisdottir, Stefania, additional, Gudjonsson, Sigurjon A., additional, Masson, Gisli, additional, Thorisson, Gudmundur A., additional, Saemundsdottir, Jona, additional, Magnusson, Olafur Th., additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Arngrimsson, Reynir, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
- Published
- 2017
- Full Text
- View/download PDF
46. Whole genome characterization of sequence diversity of 15,220 Icelanders
- Author
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Jónsson, Hákon, primary, Sulem, Patrick, additional, Kehr, Birte, additional, Kristmundsdottir, Snaedis, additional, Zink, Florian, additional, Hjartarson, Eirikur, additional, Hardarson, Marteinn T., additional, Hjorleifsson, Kristjan E., additional, Eggertsson, Hannes P., additional, Gudjonsson, Sigurjon Axel, additional, Ward, Lucas D., additional, Arnadottir, Gudny A., additional, Helgason, Einar A., additional, Helgason, Hannes, additional, Gylfason, Arnaldur, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Rafnar, Thorunn, additional, Besenbacher, Soren, additional, Frigge, Michael L., additional, Stacey, Simon N., additional, Magnusson, Olafur Th., additional, Thorsteinsdottir, Unnur, additional, Masson, Gisli, additional, Kong, Augustine, additional, Halldorsson, Bjarni V., additional, Helgason, Agnar, additional, Gudbjartsson, Daniel F., additional, and Stefansson, Kari, additional
- Published
- 2017
- Full Text
- View/download PDF
47. Identification of sequence variants influencing immunoglobulin levels
- Author
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Jonsson, Stefan, primary, Sveinbjornsson, Gardar, additional, de Lapuente Portilla, Aitzkoa Lopez, additional, Swaminathan, Bhairavi, additional, Plomp, Rosina, additional, Dekkers, Gillian, additional, Ajore, Ram, additional, Ali, Mina, additional, Bentlage, Arthur E H, additional, Elmér, Evelina, additional, Eyjolfsson, Gudmundur I, additional, Gudjonsson, Sigurjon A, additional, Gullberg, Urban, additional, Gylfason, Arnaldur, additional, Halldorsson, Bjarni V, additional, Hansson, Markus, additional, Holm, Hilma, additional, Johansson, Åsa, additional, Johnsson, Ellinor, additional, Jonasdottir, Aslaug, additional, Ludviksson, Bjorn R, additional, Oddsson, Asmundur, additional, Olafsson, Isleifur, additional, Olafsson, Sigurgeir, additional, Sigurdardottir, Olof, additional, Sigurdsson, Asgeir, additional, Stefansdottir, Lilja, additional, Masson, Gisli, additional, Sulem, Patrick, additional, Wuhrer, Manfred, additional, Wihlborg, Anna-Karin, additional, Thorleifsson, Gudmar, additional, Gudbjartsson, Daniel F, additional, Thorsteinsdottir, Unnur, additional, Vidarsson, Gestur, additional, Jonsdottir, Ingileif, additional, Nilsson, Björn, additional, and Stefansson, Kari, additional
- Published
- 2017
- Full Text
- View/download PDF
48. A genome-wide association study yields five novel thyroid cancer risk loci
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Gudmundsson, Julius, primary, Thorleifsson, Gudmar, additional, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Jonasson, Jon G., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Johannsdottir, Hrefna, additional, Halldorsson, Gisli H., additional, Stacey, Simon N., additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Senter, Leigha, additional, He, Huiling, additional, Liyanarachchi, Sandya, additional, Ringel, Matthew D., additional, Aguillo, Esperanza, additional, Panadero, Angeles, additional, Prats, Enrique, additional, Garcia-Castaño, Almudena, additional, De Juan, Ana, additional, Rivera, Fernando, additional, Xu, Li, additional, Kiemeney, Lambertus A., additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Kristvinsson, Hoskuldur, additional, Netea-Maier, Romana T., additional, Jonsson, Thorvaldur, additional, Mayordomo, Jose I., additional, Plantinga, Theo S., additional, Hjartarson, Hannes, additional, Hrafnkelsson, Jon, additional, Sturgis, Erich M., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, de la Chapelle, Albert, additional, and Stefansson, Kari, additional
- Published
- 2017
- Full Text
- View/download PDF
49. Epigenetic and genetic components of height regulation
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Benonisdottir, Stefania, primary, Oddsson, Asmundur, additional, Helgason, Agnar, additional, Kristjansson, Ragnar P., additional, Sveinbjornsson, Gardar, additional, Oskarsdottir, Arna, additional, Thorleifsson, Gudmar, additional, Davidsson, Olafur B., additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Jensson, Brynjar O., additional, Holm, Hilma, additional, Alexandersson, Kristjan F., additional, Tryggvadottir, Laufey, additional, Walters, G. Bragi, additional, Gudjonsson, Sigurjon A., additional, Ward, Lucas D., additional, Sigurdsson, Jon K., additional, Iordache, Paul D., additional, Frigge, Michael L., additional, Rafnar, Thorunn, additional, Kong, Augustine, additional, Masson, Gisli, additional, Helgason, Hannes, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
- Published
- 2016
- Full Text
- View/download PDF
50. A frameshift deletion in the sarcomere geneMYL4causes early-onset familial atrial fibrillation
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Gudbjartsson, Daniel F., primary, Holm, Hilma, additional, Sulem, Patrick, additional, Masson, Gisli, additional, Oddsson, Asmundur, additional, Magnusson, Olafur Th., additional, Saemundsdottir, Jona, additional, Helgadottir, Hafdis Th., additional, Helgason, Hannes, additional, Johannsdottir, Hrefna, additional, Gretarsdottir, Solveig, additional, Gudjonsson, Sigurjon A., additional, Njølstad, Inger, additional, Løchen, Maja-Lisa, additional, Baum, Larry, additional, Ma, Ronald C.W., additional, Sigfusson, Gunnlaugur, additional, Kong, Augustine, additional, Thorgeirsson, Guðmundur, additional, Sverrisson, Jon Th., additional, Thorsteinsdottir, Unnur, additional, Stefansson, Kari, additional, and Arnar, David O., additional
- Published
- 2016
- Full Text
- View/download PDF
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