GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
Eggertsson, Hannes P., Kristmundsdottir, Snaedis, Beyter, Doruk, Jonsson, Hakon, Skuladottir, Astros, Hardarson, Marteinn T., Gudbjartsson, Daniel F., Stefansson, Kari, Halldorsson, Bjarni V., Melsted, Pall
Published in Nature communications (27.11.2019)
Published in Nature communications (27.11.2019)
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Journal Article
Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly
Holley, Guillaume, Beyter, Doruk, Ingimundardottir, Helga, Møller, Peter L, Kristmundsdottir, Snædis, Eggertsson, Hannes P, Halldorsson, Bjarni V
Published in Genome Biology (08.01.2021)
Published in Genome Biology (08.01.2021)
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Journal Article
Sequence variants affecting the genome-wide rate of germline microsatellite mutations
Kristmundsdottir, Snaedis, Jonsson, Hakon, Hardarson, Marteinn T., Palsson, Gunnar, Beyter, Doruk, Eggertsson, Hannes P., Gylfason, Arnaldur, Sveinbjornsson, Gardar, Holley, Guillaume, Stefansson, Olafur A., Halldorsson, Gisli H., Olafsson, Sigurgeir, Arnadottir, Gudny. A., Olason, Pall I., Eiriksson, Ogmundur, Masson, Gisli, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F., Halldorsson, Bjarni V., Stefansson, Kari
Published in Nature communications (29.06.2023)
Published in Nature communications (29.06.2023)
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Journal Article
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes
Niehus, Sebastian, Jónsson, Hákon, Schönberger, Janina, Björnsson, Eythór, Beyter, Doruk, Eggertsson, Hannes P., Sulem, Patrick, Stefánsson, Kári, Halldórsson, Bjarni V., Kehr, Birte
Published in Nature communications (01.02.2021)
Published in Nature communications (01.02.2021)
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Journal Article
Graphtyper enables population-scale genotyping using pangenome graphs
Eggertsson, Hannes P, Jonsson, Hakon, Kristmundsdottir, Snaedis, Hjartarson, Eirikur, Kehr, Birte, Masson, Gisli, Zink, Florian, Hjorleifsson, Kristjan E, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F, Melsted, Pall, Stefansson, Kari, Halldorsson, Bjarni V
Published in Nature genetics (01.11.2017)
Published in Nature genetics (01.11.2017)
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Journal Article
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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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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., Stefansson, Kari
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
Differences between germline genomes of monozygotic twins
Jonsson, Hakon, Magnusdottir, Erna, Eggertsson, Hannes P., Stefansson, Olafur A., Arnadottir, Gudny A., Eiriksson, Ogmundur, Zink, Florian, Helgason, Einar A., Jonsdottir, Ingileif, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Beyter, Doruk, Steingrimsdottir, Thora, Norddahl, Gudmundur L., Magnusson, Olafur Th, Masson, Gisli, Halldorsson, Bjarni V., Thorsteinsdottir, Unnur, Helgason, Agnar, Sulem, Patrick, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature genetics (01.01.2021)
Published in Nature genetics (01.01.2021)
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Journal Article
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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Journal Article
read_haps: using read haplotypes to detect same species contamination in DNA sequences
Eggertsson, Hannes P, Halldorsson, Bjarni V
Published in Bioinformatics (Oxford, England) (09.08.2021)
Published in Bioinformatics (Oxford, England) (09.08.2021)
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Journal Article
Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
Gudbjartsson, Daniel F., Thorgeirsson, Gudmundur, Sulem, Patrick, Helgadottir, Anna, Gylfason, Arnaldur, Saemundsdottir, Jona, Bjornsson, Eythor, Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Eggertsson, Hannes P., Gretarsdottir, Solveig, Thorleifsson, Gudmar, Indridason, Olafur S., Palsson, Runolfur, Jonasson, Fridbert, Jonsdottir, Ingileif, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Danielsen, Ragnar, Matthiasson, Stefan E., Kristmundsdottir, Snaedis, Halldorsson, Bjarni V., Hreidarsson, Astradur B., Valdimarsson, Einar M., Gudnason, Thorarinn, Benediktsson, Rafn, Steinthorsdottir, Valgerdur, Thorsteinsdottir, Unnur, Holm, Hilma, Stefansson, Kari
Published in Journal of the American College of Cardiology (17.12.2019)
Published in Journal of the American College of Cardiology (17.12.2019)
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Journal Article
Multiple transmissions of de novo mutations in families
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., Stefansson, Kari
Published in Nature genetics (01.12.2018)
Published in Nature genetics (01.12.2018)
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Journal Article
popSTR2 enables clinical and population-scale genotyping of microsatellites
Kristmundsdottir, Snædis, Eggertsson, Hannes P, Arnadottir, Gudny A, Halldorsson, Bjarni V
Published in Bioinformatics (01.04.2020)
Published in Bioinformatics (01.04.2020)
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Journal Article
Sequence variants influencing the regulation of serum IgG subclass levels
Olafsdottir, Thorunn A., Thorleifsson, Gudmar, Lopez de Lapuente Portilla, Aitzkoa, Jonsson, Stefan, Stefansdottir, Lilja, Niroula, Abhishek, Jonasdottir, Aslaug, Eggertsson, Hannes P., Halldorsson, Gisli H., Thorlacius, Gudny E., Arnthorsson, Asgeir O., Bjornsdottir, Unnur S., Asselbergs, Folkert W., Bentlage, Arthur E. H., Eyjolfsson, Gudmundur I., Gudmundsdottir, Steinunn, Gunnarsdottir, Kristbjorg, Halldorsson, Bjarni V., Holm, Hilma, Ludviksson, Bjorn R., Melsted, Pall, Norddahl, Gudmundur L., Olafsson, Isleifur, Saevarsdottir, Saedis, Sigurdardottir, Olof, Sigurdsson, Asgeir, Temming, Robin, Önundarson, Pall T., Thorsteinsdottir, Unnur, Vidarsson, Gestur, Sulem, Patrick, Gudbjartsson, Daniel F., Jonsdottir, Ingileif, Nilsson, Björn, Stefansson, Kari
Published in Nature communications (14.09.2024)
Published in Nature communications (14.09.2024)
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A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
Bell, Steven, Rigas, Andreas S., Magnusson, Magnus K., Ferkingstad, Egil, Allara, Elias, Bjornsdottir, Gyda, Ramond, Anna, Sørensen, Erik, Halldorsson, Gisli H., Paul, Dirk S., Burgdorf, Kristoffer S., Eggertsson, Hannes P., Howson, Joanna M. M., Thørner, Lise W., Kristmundsdottir, Snaedis, Astle, William J., Erikstrup, Christian, Sigurdsson, Jon K., Vuckovic, Dragana, Dinh, Khoa M., Tragante, Vinicius, Surendran, Praveen, Pedersen, Ole B., Vidarsson, Brynjar, Jiang, Tao, Paarup, Helene M., Onundarson, Pall T., Akbari, Parsa, Nielsen, Kaspar R., Lund, Sigrun H., Juliusson, Kristinn, Magnusson, Magnus I., Frigge, Michael L., Oddsson, Asmundur, Olafsson, Isleifur, Kaptoge, Stephen, Hjalgrim, Henrik, Runarsson, Gudmundur, Wood, Angela M., Jonsdottir, Ingileif, Hansen, Thomas F., Sigurdardottir, Olof, Stefansson, Hreinn, Rye, David, Peters, James E., Westergaard, David, Holm, Hilma, Soranzo, Nicole, Banasik, Karina, Thorleifsson, Gudmar, Ouwehand, Willem H., Thorsteinsdottir, Unnur, Roberts, David J., Sulem, Patrick, Butterworth, Adam S., Gudbjartsson, Daniel F., Danesh, John, Brunak, Søren, Di Angelantonio, Emanuele, Ullum, Henrik, Stefansson, Kari
Published in Communications biology (03.02.2021)
Published in Communications biology (03.02.2021)
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Journal Article
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
Olafsdottir, Thorhildur, Stacey, Simon N, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Norland, Kristjan, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Kristjansson, Arni Kjalar, Tryggvadottir, Laufey, Sarin, Kavita Y, Benediktsson, Rafn, Jonasson, Jon G, Sigurdsson, Asgeir, Jonasdottir, Aslaug, Kristmundsdottir, Snaedis, Jonsson, Hakon, Gylfason, Arnaldur, Oddsson, Asmundur, Fridriksdottir, Run, Gudjonsson, Sigurjon A, Zink, Florian, Lund, Sigrun H, Rognvaldsson, Solvi, Melsted, Pall, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Mikaelsdottir, Evgenia, Olason, Pall I, Stefansdottir, Lilja, Eggertsson, Hannes P, Halldorsson, Bjarni V, Thorsteinsdottir, Unnur, Agustsson, Tomas T, Olafsson, Karl, Olafsson, Jon H, Sulem, Patrick, Rafnar, Thorunn, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Cancer research (Chicago, Ill.) (15.04.2021)
Published in Cancer research (Chicago, Ill.) (15.04.2021)
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Journal Article
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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., Stefansson, Kari
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis
Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Communications biology (09.06.2021)
Published in Communications biology (09.06.2021)
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Journal Article
Identification of Lynch syndrome risk variants in the Romanian population
Iordache, Paul D., Mates, Dana, Gunnarsson, Bjarni, Eggertsson, Hannes P., Sulem, Patrick, Benonisdottir, Stefania, Csiki, Irma Eva, Rascu, Stefan, Radavoi, Daniel, Ursu, Radu, Staicu, Catalin, Calota, Violeta, Voinoiu, Angelica, Jinga, Mariana, Rosoga, Gabriel, Danau, Razvan, Sima, Sorin Cristian, Badescu, Daniel, Suciu, Nicoleta, Radoi, Viorica, Mates, Ioan Nicolae, Dobra, Mihai, Nicolae, Camelia, Kristjansdottir, Sigrun, Jonasson, Jon G., Manolescu, Andrei, Arnadottir, Gudny, Jensson, Brynjar, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Roux, Louise, Johannsdottir, Hrefna, Rafnar, Thorunn, Halldorsson, Bjarni V., Jinga, Viorel, Stefansson, Kari
Published in Journal of cellular and molecular medicine (01.12.2018)
Published in Journal of cellular and molecular medicine (01.12.2018)
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Journal Article
Profile of common prostate cancer risk variants in an unscreened Romanian population
Iordache, Paul D., Mates, Dana, Gunnarsson, Bjarni, Eggertsson, Hannes P., Sulem, Patrick, Guðmundsson, Júlíus, Benónísdóttir, Stefania, Csiki, Irma Eva, Rascu, Stefan, Radavoi, Daniel, Ursu, Radu, Staicu, Catalin, Calota, Violeta, Voinoiu, Angelica, Jinga, Mariana, Rosoga, Gabriel, Danau, Razvan, Sima, Sorin Cristian, Badescu, Daniel, Suciu, Nicoleta, Radoi, Viorica, Manolescu, Andrei, Rafnar, Thorunn, Halldórsson, Bjarni V., Jinga, Viorel, Stefánsson, Kári
Published in Journal of cellular and molecular medicine (01.03.2018)
Published in Journal of cellular and molecular medicine (01.03.2018)
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