Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Hakon Jonsson"'
Autor:
Snaedis Kristmundsdottir, Hakon Jonsson, Marteinn T. Hardarson, Gunnar Palsson, Doruk Beyter, Hannes P. Eggertsson, Arnaldur Gylfason, Gardar Sveinbjornsson, Guillaume Holley, Olafur A. Stefansson, Gisli H. Halldorsson, Sigurgeir Olafsson, Gudny. A. Arnadottir, Pall I. Olason, Ogmundur Eiriksson, Gisli Masson, Unnur Thorsteinsdottir, Thorunn Rafnar, Patrick Sulem, Agnar Helgason, Daniel F. Gudbjartsson, Bjarni V. Halldorsson, Kari Stefansson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and are some of the most polymorphic variants in the genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65
Externí odkaz:
https://doaj.org/article/113e73b990e84e01a7edcf95e209fb66
Autor:
Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
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 homozygos
Externí odkaz:
https://doaj.org/article/a4fa595277a74ef2949c5d74d9c4032d
Autor:
Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/5f67c08c01ba468598a7f011b98dd4d8
Autor:
Hakon Jonsson, Olafur T. Magnusson, Pall Melsted, Jonas Berglund, Arna B. Agustsdottir, Berglind Eiríksdottir, Run Fridriksdottir, Elisabet Eir Garðarsdottir, Gudmundur Georgsson, Olafia S. Gretarsdottir, Kjartan R. Guðmundsson, Thora Rosa Gunnarsdottir, Hannes Eggertsson, Arnaldur Gylfason, Hilma Holm, Brynjar O. Jensson, Aslaug Jonasdottir, Frosti Jonsson, Kamilla S. Josefsdottir, Marianna Thordardottir, Karl G. Kristinsson, Þórður Kristjánsson, Droplaug N. Magnusdottir, Louise le Roux, Jona Saemundsdottir, Asgeir Sigurdsson, Gudrun Sigmundsdottir, Gardar Sveinbjornsson, Solvi Rognvaldsson, Ogmundur Eiriksson, Magnus Karl Magnusson, Kristin Eva Sveinsdottir, Maney Sveinsdottir, Emil Aron Thorarensen, Bjarni Thorbjornsson, Arthur Löve, Gudmundur L. Norddahl, Ingileif Jonsdottir, Patrick Sulem, Gisli Masson, Alma Moller, Thorolfur Gudnason, Mar Kristjansson, Agnar Helgason, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Kari Stefansson
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)
The concentration of SARS-CoV-2 changes during an individual’s infection, and mutations accumulate as viruses are transmitted between people. Here, the authors use data from Iceland to demonstrate how this information can be exploited at the popula
Externí odkaz:
https://doaj.org/article/09b4d305bbe74a81ada5dc0798d210f2
Autor:
Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Structural variants may be omitted in sequence analysis despite their importance in genome variation and phenotypic impact. Here the authors present GraphTyper2, which uses pangenome graphs to genotype structural variants using short-reads and can be
Externí odkaz:
https://doaj.org/article/cd77ec3f22c54b3da55a42242e739711
Autor:
Unnur Styrkarsdottir, Olafur A. Stefansson, Kristbjorg Gunnarsdottir, Gudmar Thorleifsson, Sigrun H. Lund, Lilja Stefansdottir, Kristinn Juliusson, Arna B. Agustsdottir, Florian Zink, Gisli H. Halldorsson, Erna V. Ivarsdottir, Stefania Benonisdottir, Hakon Jonsson, Arnaldur Gylfason, Kristjan Norland, Katerina Trajanoska, Cindy G. Boer, Lorraine Southam, Jason C. S. Leung, Nelson L. S. Tang, Timothy C. Y. Kwok, Jenny S. W. Lee, Suzanne C. Ho, Inger Byrjalsen, Jacqueline R. Center, Seung Hun Lee, Jung-Min Koh, L. Stefan Lohmander, Lan T. Ho-Pham, Tuan V. Nguyen, John A. Eisman, Jean Woo, Ping-C. Leung, John Loughlin, Eleftheria Zeggini, Claus Christiansen, Fernando Rivadeneira, Joyce van Meurs, Andre G. Uitterlinden, Brynjolfur Mogensen, Helgi Jonsson, Thorvaldur Ingvarsson, Gunnar Sigurdsson, Rafn Benediktsson, Patrick Sulem, Ingileif Jonsdottir, Gisli Masson, Hilma Holm, Gudmundur L. Norddahl, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Kari Stefansson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Size and shape of bones are important for height and body shape. Here, Styrkarsdottir et al identify 12 loci in a GWAS for bone area derived from DXA scans and show that these loci associate with other bone-related phenotypes including osteoarthritis
Externí odkaz:
https://doaj.org/article/80e678269bfd4ce6a62646dd799db50a
Autor:
Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance
Externí odkaz:
https://doaj.org/article/17b82beed8f640dc8ff4b312e80a5ff4
Autor:
Unnur Styrkarsdottir, Olafur A. Stefansson, Kristbjorg Gunnarsdottir, Gudmar Thorleifsson, Sigrun H. Lund, Lilja Stefansdottir, Kristinn Juliusson, Arna B. Agustsdottir, Florian Zink, Gisli H. Halldorsson, Erna V. Ivarsdottir, Stefania Benonisdottir, Hakon Jonsson, Arnaldur Gylfason, Kristjan Norland, Katerina Trajanoska, Cindy G. Boer, Lorraine Southam, Jason C. S. Leung, Nelson L. S. Tang, Timothy C. Y. Kwok, Jenny S. W. Lee, Suzanne C. Ho, Inger Byrjalsen, Jacqueline R. Center, Seung Hun Lee, Jung-Min Koh, L. Stefan Lohmander, Lan T. Ho-Pham, Tuan V. Nguyen, John A. Eisman, Jean Woo, Ping-C. Leung, John Loughlin, Eleftheria Zeggini, Claus Christiansen, Fernando Rivadeneira, Joyce van Meurs, Andre G. Uitterlinden, Brynjolfur Mogensen, Helgi Jonsson, Thorvaldur Ingvarsson, Gunnar Sigurdsson, Rafn Benediktsson, Patrick Sulem, Ingileif Jonsdottir, Gisli Masson, Hilma Holm, Gudmundur L. Norddahl, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Kari Stefansson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-2 (2019)
The original HTML version of this Article was updated shortly after publication to add links to the Peer Review file. In addition, affiliations 16 and 17 incorrectly read ‘School of Medicine Sydney, University of Notre Dame Australia, Sydney, WA, 6
Externí odkaz:
https://doaj.org/article/73143504c4ff421d93133cfb93afa03c
Autor:
Kari Stefansson, Daniel F. Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Jon H. Olafsson, Karl Olafsson, Tomas T. Agustsson, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Hannes P. Eggertsson, Lilja Stefansdottir, Pall I. Olason, Evgenia Mikaelsdottir, Julius Gudmundsson, Valgerdur Steinthorsdottir, Pall Melsted, Solvi Rognvaldsson, Sigrun H. Lund, Florian Zink, Sigurjon A. Gudjonsson, Run Fridriksdottir, Asmundur Oddsson, Arnaldur Gylfason, Hakon Jonsson, Snaedis Kristmundsdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Jon G. Jonasson, Rafn Benediktsson, Kavita Y. Sarin, Laufey Tryggvadottir, Arni Kjalar Kristjansson, Kristin Thorisdottir, Bardur Sigurgeirsson, Kristjan Norland, Gudmar Thorleifsson, Gardar Sveinbjornsson, Simon N. Stacey, Thorhildur Olafsdottir
Supplementary Methods, Supplementary Tables 1-18 and Supplementary Figures 1-5.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408cfbab7da2b2bf26b7c6b156fbfbd7
https://doi.org/10.1158/0008-5472.22428144
https://doi.org/10.1158/0008-5472.22428144
Data from Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
Autor:
Kari Stefansson, Daniel F. Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Jon H. Olafsson, Karl Olafsson, Tomas T. Agustsson, Unnur Thorsteinsdottir, Bjarni V. Halldorsson, Hannes P. Eggertsson, Lilja Stefansdottir, Pall I. Olason, Evgenia Mikaelsdottir, Julius Gudmundsson, Valgerdur Steinthorsdottir, Pall Melsted, Solvi Rognvaldsson, Sigrun H. Lund, Florian Zink, Sigurjon A. Gudjonsson, Run Fridriksdottir, Asmundur Oddsson, Arnaldur Gylfason, Hakon Jonsson, Snaedis Kristmundsdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Jon G. Jonasson, Rafn Benediktsson, Kavita Y. Sarin, Laufey Tryggvadottir, Arni Kjalar Kristjansson, Kristin Thorisdottir, Bardur Sigurgeirsson, Kristjan Norland, Gudmar Thorleifsson, Gardar Sveinbjornsson, Simon N. Stacey, Thorhildur Olafsdottir
The success of genome-wide association studies (GWAS) in identifying common, low-penetrance variant-cancer associations for the past decade is undisputed. However, discovering additional high-penetrance cancer mutations in unknown cancer predisposing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a64ddcbf821174dc24973d3491115354
https://doi.org/10.1158/0008-5472.c.6512925.v1
https://doi.org/10.1158/0008-5472.c.6512925.v1