Weighting sequence variants based on their annotation increases power of whole-genome association studies
Sveinbjornsson, Gardar, Albrechtsen, Anders, Zink, Florian, Gudjonsson, Sigurjón A, Oddson, Asmundur, Másson, Gísli, Holm, Hilma, Kong, Augustine, Thorsteinsdottir, Unnur, Sulem, Patrick, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Nature genetics (01.03.2016)
Published in Nature genetics (01.03.2016)
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Characterizing mutagenic effects of recombination through a sequence-level genetic map
Halldorsson, Bjarni V, Palsson, Gunnar, Stefansson, Olafur A, Jonsson, Hakon, Hardarson, Marteinn T, Eggertsson, Hannes P, Gunnarsson, Bjarni, Oddsson, Asmundur, Halldorsson, Gisli H, Zink, Florian, Gudjonsson, Sigurjon A, Frigge, Michael L, Thorleifsson, Gudmar, Sigurdsson, Asgeir, Stacey, Simon N, Sulem, Patrick, Masson, Gisli, Helgason, Agnar, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Science (American Association for the Advancement of Science) (25.01.2019)
Published in Science (American Association for the Advancement of Science) (25.01.2019)
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Rate of de novo mutations and the importance of father’s age to disease risk
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, Stefansson, Kari
Published in Nature (London) (23.08.2012)
Published in Nature (London) (23.08.2012)
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Identification of a large set of rare complete human knockouts
Sulem, Patrick, Helgason, Hannes, Oddson, Asmundur, Stefansson, Hreinn, Gudjonsson, Sigurjon A, Zink, Florian, Hjartarson, Eirikur, Sigurdsson, Gunnar Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur Th, Kong, Augustine, Helgason, Agnar, Holm, Hilma, Thorsteinsdottir, Unnur, Masson, Gisli, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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Fine-scale recombination rate differences between sexes, populations and individuals
Gudbjartsson, Daniel F, Gudjonsson, Sigurjon A, Kristinsson, Kari Th, Helgason, Agnar, Gylfason, Arnaldur, Sigurdsson, Asgeir, Masson, Gisli, Stefansson, Kari, Frigge, Michael L, Walters, G. Bragi, Thorsteinsdottir, Unnur, Thorleifsson, Gudmar, Kong, Augustine, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg
Published in Nature (London) (28.10.2010)
Published in Nature (London) (28.10.2010)
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Several common variants modulate heart rate, PR interval and QRS duration
Holm, Hilma, Stefansson, Kari, Gudbjartsson, Daniel F, Arnar, David O, Thorleifsson, Gudmar, Thorgeirsson, Gudmundur, Stefansdottir, Hrafnhildur, Gudjonsson, Sigurjon A, Jonasdottir, Aslaug, Mathiesen, Ellisiv B, Njølstad, Inger, Nyrnes, Audhild, Wilsgaard, Tom, Hald, Erin M, Hveem, Kristian, Stoltenberg, Camilla, Løchen, Maja-Lisa, Kong, Augustine, Thorsteinsdottir, Unnur
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
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, Stefansson, Kari
Published in Nature communications (09.07.2024)
Published in Nature communications (09.07.2024)
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Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
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, Palsson, Runolfur
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture
Guðbjartsson, Hákon, Georgsson, Guðmundur Fr, Guðjónsson, Sigurjón A, Valdimarsson, Ragnar Þór, Sigurðsson, Jóhann H, Stefánsson, Sigmar K, Másson, Gísli, Magnússon, Gísli, Pálmason, Vilmundur, Stefánsson, Kári
Published in Bioinformatics (Oxford, England) (15.10.2016)
Published in Bioinformatics (Oxford, England) (15.10.2016)
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Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Center, Jacqueline R., Lee, Seung Hun, Nguyen, Tuan V., Kwok, Timothy C.Y., Lee, Jenny S.W., Ho, Suzanne C., Woo, Jean, Leung, Ping-C., Kim, Beom-Jun, Rafnar, Thorunn, Kiemeney, Lambertus A., Ingvarsson, Thorvaldur, Koh, Jung-Min, Tang, Nelson L.S., Eisman, John A., Christiansen, Claus, Sigurdsson, Gunnar, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature communications (06.01.2016)
Published in Nature communications (06.01.2016)
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A high-resolution recombination map of the human genome
Kong, Augustine, Stefansson, Kari, Gudbjartsson, Daniel F, Sainz, Jesus, Jonsdottir, Gudrun M, Gudjonsson, Sigurjon A, Richardsson, Bjorgvin, Sigurdardottir, Sigrun, Barnard, John, Hallbeck, Bjorn, Masson, Gisli, Shlien, Adam, Palsson, Stefan T, Frigge, Michael L, Thorgeirsson, Thorgeir E, Gulcher, Jeffrey R
Published in Nature genetics (01.07.2002)
Published in Nature genetics (01.07.2002)
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Arnadottir, Gudny A, Jensson, Brynjar O, Marelsson, Sigurdur E, Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P, Benonisdottir, Stefania, Gudjonsson, Sigurjon A, Masson, Gisli, Thorisson, Gudmundur A, Saemundsdottir, Jona, Magnusson, Olafur Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Published in BMC medical genetics (02.10.2017)
Published in BMC medical genetics (02.10.2017)
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Journal Article
Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
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, Stefansson, Kari
Published in NPJ Parkinson's Disease (15.08.2024)
Published in NPJ Parkinson's Disease (15.08.2024)
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Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
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, Stefansson, Kari
Published in Blood (10.08.2017)
Published in Blood (10.08.2017)
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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
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., Stefansson, Kari
Published in Nature genetics (01.06.2021)
Published in Nature genetics (01.06.2021)
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Large-scale plasma proteomics comparisons through genetics and disease associations
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, Stefansson, Kari
Published in Nature (London) (12.10.2023)
Published in Nature (London) (12.10.2023)
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Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
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., Stefansson, Kari
Published in Nature genetics (01.11.2018)
Published in Nature genetics (01.11.2018)
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Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
Steinberg, Stacy, Stefansson, Hreinn, Jonsson, Thorlakur, Johannsdottir, Hrefna, Ingason, Andres, Helgason, Hannes, Sulem, Patrick, Magnusson, Olafur Th, Gudjonsson, Sigurjon A, Unnsteinsdottir, Unnur, Kong, Augustine, Helisalmi, Seppo, Soininen, Hilkka, Lah, James J, Aarsland, Dag, Fladby, Tormod, Ulstein, Ingun D, Djurovic, Srdjan, Sando, Sigrid B, White, Linda R, Knudsen, Gun-Peggy, Westlye, Lars T, Selbæk, Geir, Giegling, Ina, Hampel, Harald, Hiltunen, Mikko, Levey, Allan I, Andreassen, Ole A, Rujescu, Dan, Jonsson, Palmi V, Bjornsson, Sigurbjorn, Snaedal, Jon, Stefansson, Kari
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Sulem, Patrick, Helgason, Hannes, Grarup, Niels, Sigurdsson, Asgeir, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Magnusson, Olafur T, Gudjonsson, Sigurjon A, Justesen, Johanne M, Harder, Marie N, Jørgensen, Marit E, Christensen, Cramer, Brandslund, Ivan, Sandbæk, Annelli, Lauritzen, Torsten, Vestergaard, Henrik, Linneberg, Allan, Jørgensen, Torben, Hansen, Torben, Daneshpour, Maryam S, Fallah, Mohammad-Sadegh, Hreidarsson, Astradur B, Sigurdsson, Gunnar, Azizi, Fereidoun, Benediktsson, Rafn, Masson, Gisli, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F, Pedersen, Oluf, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.03.2014)
Published in Nature genetics (01.03.2014)
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Parental origin of sequence variants associated with complex diseases
Gudjonsson, Sigurjon A, Sigurdsson, Helgi, Kristinsson, Kari Th, Sigurdsson, Asgeir, Hreidarsson, Astradur B, Masson, Gisli, Ferguson-Smith, Anne C, Frigge, Michael L, Jonsson, Thorvaldur, Stacey, Simon N, Olafsson, Jon H, Benediktsdottir, Kristrun R, Gudbjartsson, Daniel F, Besenbacher, Soren, Gylfason, Arnaldur, Sigurgeirsson, Bardur, Olason, Pall I, Sverrisson, Sverrir, Stefansson, Kari, Johannsson, Oskar Th, Thorsteinsdottir, Unnur, Benediktsson, Rafn, Thorleifsson, Gudmar, Kong, Augustine, Steinthorsdottir, Valgerdur, Sulem, Patrick, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Gunnar
Published in Nature (London) (17.12.2009)
Published in Nature (London) (17.12.2009)
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