Found: 9

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  • Sequence variants affecting the genome-wide rate of germline microsatellite mutations.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39547-6
    By:
    • 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
    Publication type:
    Article

  • Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly.

    Published in:
    Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02244-4
    By:
    • Holley, Guillaume;
    • Beyter, Doruk;
    • Ingimundardottir, Helga;
    • Møller, Peter L.;
    • Kristmundsdottir, Snædis;
    • Eggertsson, Hannes P.;
    • Halldorsson, Bjarni V.
    Publication type:
    Article

  • Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09304-9
    By:
    • Ivarsdottir, Erna V.;
    • Benonisdottir, Stefania;
    • Thorleifsson, Gudmar;
    • Sulem, Patrick;
    • Oddsson, Asmundur;
    • Styrkarsdottir, Unnur;
    • Kristmundsdottir, Snaedis;
    • Arnadottir, Gudny A.;
    • Thorgeirsson, Gudmundur;
    • Jonsdottir, Ingileif;
    • Zoega, Gunnar M.;
    • Thorsteinsdottir, Unnur;
    • Gudbjartsson, Daniel F.;
    • Jonasson, Fridbert;
    • Holm, Hilma;
    • Stefansson, Kari
    Publication type:
    Article

  • popSTR2 enables clinical and population-scale genotyping of microsatellites.

    Published in:
    Bioinformatics, 2020, v. 36, n. 7, p. 2269, doi. 10.1093/bioinformatics/btz913
    By:
    • Kristmundsdottir, Snædis;
    • Eggertsson, Hannes P;
    • Arnadottir, Gudny A;
    • Halldorsson, Bjarni V
    Publication type:
    Article

  • A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-020-01575-z
    By:
    • 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.
    Publication type:
    Article

  • popSTR: population-scale detection of STR variants.

    Published in:
    Bioinformatics, 2017, v. 33, n. 24, p. 4041, doi. 10.1093/bioinformatics/btw568
    By:
    • Kristmundsdóttir, Snædís;
    • Sigurpálsdóttir, Brynja D.;
    • Kehr, Birte;
    • Halldórsson, Bjarni V.
    Publication type:
    Article

  • GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13341-9
    By:
    • Eggertsson, Hannes P.;
    • Kristmundsdottir, Snaedis;
    • Beyter, Doruk;
    • Jonsson, Hakon;
    • Skuladottir, Astros;
    • Hardarson, Marteinn T.;
    • Gudbjartsson, Daniel F.;
    • Stefansson, Kari;
    • Halldorsson, Bjarni V.;
    • Melsted, Pall
    Publication type:
    Article

  • Sequence variants associating with urinary biomarkers.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 7, p. 1199, doi. 10.1093/hmg/ddy409
    By:
    • Benonisdottir, Stefania;
    • Kristjansson, Ragnar P;
    • Oddsson, Asmundur;
    • Steinthorsdottir, Valgerdur;
    • Mikaelsdottir, Evgenia;
    • Kehr, Birte;
    • Jensson, Brynjar O;
    • Arnadottir, Gudny A;
    • Sulem, Gerald;
    • Sveinbjornsson, Gardar;
    • Kristmundsdottir, Snaedis;
    • Ivarsdottir, Erna V;
    • Tragante, Vinicius;
    • Gunnarsson, Bjarni;
    • Runolfsdottir, Hrafnhildur Linnet;
    • Arthur, Joseph G;
    • Deaton, Aimee M;
    • Eyjolfsson, Gudmundur I;
    • Davidsson, Olafur B;
    • Asselbergs, Folkert W
    Publication type:
    Article

  • Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.

    Published in:
    Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05079-4
    By:
    • Kristjansson, Ragnar P.;
    • Oskarsson, Gudjon R.;
    • Skuladottir, Astros;
    • Oddsson, Asmundur;
    • Rognvaldsson, Solvi;
    • Sveinbjornsson, Gardar;
    • Lund, Sigrun H.;
    • Jensson, Brynjar O.;
    • Styrmisdottir, Edda L.;
    • Halldorsson, Gisli H.;
    • Ferkingstad, Egil;
    • Eldjarn, Grimur Hjorleifsson;
    • Beyter, Doruk;
    • Kristmundsdottir, Snædis;
    • Juliusson, Kristinn;
    • Fridriksdottir, Run;
    • Arnadottir, Gudny A.;
    • Katrinardottir, Hildigunnur;
    • Snorradottir, Margret H.;
    • Tragante, Vinicius
    Publication type:
    Article