Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Snaedis Kristmundsdottir"'
Autor:
Ragnar P. Kristjansson, Gudjon R. Oskarsson, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H. Lund, Brynjar O. Jensson, Edda L. Styrmisdottir, Gisli H. Halldorsson, Egil Ferkingstad, Grimur Hjorleifsson Eldjarn, Doruk Beyter, Snædis Kristmundsdottir, Kristinn Juliusson, Run Fridriksdottir, Gudny A. Arnadottir, Hildigunnur Katrinardottir, Margret H. Snorradottir, Vinicius Tragante, Lilja Stefansdottir, Erna V. Ivarsdottir, Gyda Bjornsdottir, Bjarni V. Halldorsson, Gudmar Thorleifsson, Bjorn R. Ludviksson, Pall T. Onundarson, Saedis Saevarsdottir, Pall Melsted, Gudmundur L. Norddahl, Unnur S. Bjornsdottir, Thorunn Olafsdottir, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Patrick Sulem, Kari Stefansson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-9 (2023)
Abstract Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total o
Externí odkaz:
https://doaj.org/article/1e7c03c21b63437397dd6ce3465df5ca
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:
Steven Bell, Andreas S. Rigas, Magnus K. Magnusson, Egil Ferkingstad, Elias Allara, Gyda Bjornsdottir, Anna Ramond, Erik Sørensen, Gisli H. Halldorsson, Dirk S. Paul, Kristoffer S. Burgdorf, Hannes P. Eggertsson, Joanna M. M. Howson, Lise W. Thørner, Snaedis Kristmundsdottir, William J. Astle, Christian Erikstrup, Jon K. Sigurdsson, Dragana Vuckovic, Khoa M. Dinh, Vinicius Tragante, Praveen Surendran, Ole B. Pedersen, Brynjar Vidarsson, Tao Jiang, Helene M. Paarup, Pall T. Onundarson, Parsa Akbari, Kaspar R. Nielsen, Sigrun H. Lund, Kristinn Juliusson, Magnus I. Magnusson, Michael L. Frigge, Asmundur Oddsson, Isleifur Olafsson, Stephen Kaptoge, Henrik Hjalgrim, Gudmundur Runarsson, Angela M. Wood, Ingileif Jonsdottir, Thomas F. Hansen, Olof Sigurdardottir, Hreinn Stefansson, David Rye, DBDS Genomic Consortium, James E. Peters, David Westergaard, Hilma Holm, Nicole Soranzo, Karina Banasik, Gudmar Thorleifsson, Willem H. Ouwehand, Unnur Thorsteinsdottir, David J. Roberts, Patrick Sulem, Adam S. Butterworth, Daniel F. Gudbjartsson, John Danesh, Søren Brunak, Emanuele Di Angelantonio, Henrik Ullum, Kari Stefansson
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Bell et al. report 46 new loci associated with biomarkers of iron homeostasis, including ferritin levels, iron binding capacity, and iron saturation, in the Icelandic, Danish and UK populations. The associated loci point to new iron-regulating protei
Externí odkaz:
https://doaj.org/article/35ea0870b7404ce2af991707d7676fe3
Autor:
Guillaume Holley, Doruk Beyter, Helga Ingimundardottir, Peter L. Møller, Snædis Kristmundsdottir, Hannes P. Eggertsson, Bjarni V. Halldorsson
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-22 (2021)
Abstract A major challenge to long read sequencing data is their high error rate of up to 15%. We present Ratatosk, a method to correct long reads with short read data. We demonstrate on 5 human genome trios that Ratatosk reduces the error rate of lo
Externí odkaz:
https://doaj.org/article/ae95bd781a544d83a00154b7906d8e9c
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
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
Autor:
Erna V. Ivarsdottir, Stefania Benonisdottir, Gudmar Thorleifsson, Patrick Sulem, Asmundur Oddsson, Unnur Styrkarsdottir, Snaedis Kristmundsdottir, Gudny A. Arnadottir, Gudmundur Thorgeirsson, Ingileif Jonsdottir, Gunnar M. Zoega, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Fridbert Jonasson, Hilma Holm, Kari Stefansson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
The corneal endothelium is crucial for proper vision. Here, Ivarsdottir et al. perform genome-wide association studies for various corneal endothelial cell measurements and find that an intergenic variant near ANAPC1 explains 24% of the variance of e
Externí odkaz:
https://doaj.org/article/11f4c12f2e434eab98745914146fa715
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