Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Pall I, Olason"'
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:
Laura Duran-Lozano, Gudmar Thorleifsson, Aitzkoa Lopez de Lapuente Portilla, Abhishek Niroula, Molly Went, Malte Thodberg, Maroulio Pertesi, Ram Ajore, Caterina Cafaro, Pall I. Olason, Lilja Stefansdottir, G. Bragi Walters, Gisli H. Halldorsson, Ingemar Turesson, Martin F. Kaiser, Niels Weinhold, Niels Abildgaard, Niels Frost Andersen, Ulf-Henrik Mellqvist, Anders Waage, Annette Juul-Vangsted, Unnur Thorsteinsdottir, Markus Hansson, Richard Houlston, Thorunn Rafnar, Kari Stefansson, Björn Nilsson
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 4, Pp 1-8 (2021)
Abstract Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide associa
Externí odkaz:
https://doaj.org/article/39306bdf64254d54930fcaa0a91e984b
Autor:
Astros Th. Skuladottir, Gyda Bjornsdottir, Gudmar Thorleifsson, G. Bragi Walters, Muhammad Sulaman Nawaz, Kristjan Helgi Swerford Moore, Pall I. Olason, Thorgeir E. Thorgeirsson, Brynja Sigurpalsdottir, Gardar Sveinbjornsson, Hannes P. Eggertsson, Sigurdur H. Magnusson, Asmundur Oddsson, Anna Bjornsdottir, Arnor Vikingsson, Olafur A. Sveinsson, Maria G. Hrafnsdottir, Gudrun R. Sigurdardottir, Bjarni V. Halldorsson, Thomas Folkmann Hansen, Helene Paarup, Christian Erikstrup, Kaspar Nielsen, Mads Klokker, Mie Topholm Bruun, Erik Sorensen, Karina Banasik, Kristoffer S. Burgdorf, Ole Birger Pedersen, Henrik Ullum, Ingileif Jonsdottir, Hreinn Stefansson, Kari Stefansson
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous stud
Externí odkaz:
https://doaj.org/article/3d2fc42f3e4e427a80a49c09b7408bbb
Autor:
Maxime Garcia, Szilveszter Juhos, Malin Larsson, Pall I. Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt
Publikováno v:
F1000Research, Vol 9 (2020)
Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers s
Externí odkaz:
https://doaj.org/article/05a73ce337a649f6a7c3c6a9bd0170ec
Autor:
Daniel Svensson, Matilda Rentoft, Anna M Dahlin, Emma Lundholm, Pall I Olason, Andreas Sjödin, Carin Nylander, Beatrice S Melin, Johan Trygg, Erik Johansson
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0237721 (2020)
The number of national reference populations that are whole-genome sequenced are rapidly increasing. Partly driving this development is the fact that genetic disease studies benefit from knowing the genetic variation typical for the geographical area
Externí odkaz:
https://doaj.org/article/742d8d13684e45e7b7235ef6d79ccbbb
Autor:
Maxime Garcia, Szilveszter Juhos, Malin Larsson, Pall I. Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt
Publikováno v:
F1000Research, Vol 9 (2020)
Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers s
Externí odkaz:
https://doaj.org/article/73960a360a4448db9833dbe29df58531
Autor:
Laura Duran-Lozano, Gudmar Thorleifsson, Aitzkoa Lopez de Lapuente Portilla, Abhishek Niroula, Molly Went, Malte Thodberg, Maroulio Pertesi, Ram Ajore, Caterina Cafaro, Pall I. Olason, Lilja Stefansdottir, G. Bragi Walters, Gisli H. Halldorsson, Ingemar Turesson, Martin F. Kaiser, Niels Weinhold, Niels Abildgaard, Niels Frost Andersen, Ulf-Henrik Mellqvist, Anders Waage, Annette Juul-Vangsted, Unnur Thorsteinsdottir, Markus Hansson, Richard Houlston, Thorunn Rafnar, Kari Stefansson, Björn Nilsson
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 11, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/83da53e7a4d04bc28e6f7d46fb468431
Autor:
Matilda Rentoft, Daniel Svensson, Andreas Sjödin, Pall I Olason, Olle Sjöström, Carin Nylander, Pia Osterman, Rickard Sjögren, Sergiu Netotea, Carl Wibom, Kristina Cederquist, Andrei Chabes, Johan Trygg, Beatrice S Melin, Erik Johansson
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0213350 (2019)
Whole-genome sequencing is a promising approach for human autosomal dominant disease studies. However, the vast number of genetic variants observed by this method constitutes a challenge when trying to identify the causal variants. This is often hand
Externí odkaz:
https://doaj.org/article/9b8a06b2b5274ef9a69fa9d3f6ad38d7
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