Opin vísindi

Fletta eftir höfundi "Eggertsson, Hannes"

Fletta eftir höfundi "Eggertsson, Hannes"

Röðun: Raða: Niðurstöður:

  • Icon
    DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis 
    Kular, Lara; Liu, Yun; Ruhrmann, Sabrina; Zheleznyakova, Galina; Marabita, Francesco; Gomez-Cabrero, David; James, Tojo; Ewing, Ewoud; Lindén, Magdalena; Górnikiewicz, Bartosz; Aeinehband, Shahin; Stridh, Pernilla; Link, Jenny; Andlauer, Till F. M.; Gasperi, Christiane; Wiendl, Heinz; Zipp, Frauke; Gold, Ralf; Tackenberg, Björn; Weber, Frank; Hemmer, Bernhard; Strauch, Konstantin; Heilmann-Heimbach, Stefanie; Rawal, Rajesh; Schminke, Ulf; Schmidt, Carsten O.; Kacprowski, Tim; Franke, Andre; Laudes, Matthias; Dilthey, Alexander T.; Celius, Elisabeth G.; Søndergaard, Helle B.; Tegnér, Jesper; Harbo, Hanne F.; Oturai, Annette B.; Sigurgeir Ólafsson; Eggertsson, Hannes; Halldórsson, Bjarni; Hjaltason, Haukur; Elías Ólafsson; Jonsdottir, Ingileif; Stefansson, Kari; Olsson, Tomas; Piehl, Fredrik; Ekström, Tomas J.; Kockum, Ingrid; Feinberg, Andrew P.; Jagodic, Maja (Springer Science and Business Media LLC, 2018-06-19)
    The human leukocyte antigen (HLA) haplotype DRB1*15:01 is the major risk factor for multiple sclerosis (MS). Here, we find that DRB1*15:01 is hypomethylated and predominantly expressed in monocytes among carriers of DRB1*15:01. A differentially methylated ...
  • Icon
    GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs 
    Eggertsson, Hannes; Kristmundsdóttir, Snædís; Beyter, Doruk; Jónsson, Hákon; Skúladóttir, Ástrós; Hardarson, Marteinn; Gudbjartsson, Daniel; Stefansson, Kari; Halldórsson, Bjarni; Melsted, Páll (Springer Science and Business Media LLC, 2019-11-27)
    Analysis of sequence diversity in the human genome is fundamental for genetic studies. Structural variants (SVs) are frequently omitted in sequence analysis studies, although each has a relatively large impact on the genome. Here, we present GraphTyper2, ...
  • Icon
    GraphTyper: A pangenome method for identifyingsequence variants at a population scale 
    Eggertsson, Hannes (University of Iceland, School of Engineering and Natural Sciences, Faculty of Industrial Engineering, Mechanical Engineering and Computer Science, 2019-06)
    A fundamental requisite for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to utilize this knowledge in sequence analysis. ...
  • Icon
    Identification of Lynch syndrome risk variants in the Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; 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; Jónasson, Jón G.; Manolescu, Andrei; Arnadottir, Gudny; Jensson, Brynjar Örn; Jonasdottir, Aslaug; Sigurdsson, Asgeir; le Roux, Louise; Johannsdottir, Hrefna; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2018-10-16)
    Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information ...
  • Icon
    Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes 
    Gudbjartsson, Daniel; Thorgeirsson, Gudmundur; sulem, patrick; Helgadottir, Anna; Gylfason, Arnaldur; Sæmundsdóttir, Jóna; Björnsson, Eyþór; Norðdahl, Guðmundur L.; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Eggertsson, Hannes; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Indridason, Olafur Skuli; Palsson, Runolfur; Jónasson, Friðbert; Jonsdottir, Ingileif; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Danielsen, Ragnar; Matthíasson, Stefán E.; Kristmundsdóttir, Snædís; Halldórsson, Bjarni V.; Hreiðarsson, Ástráður Benedikt; Valdimarsson, Einar M.; Gudnason, Thorarinn; Benediktsson, Rafn; Steinthorsdottir, Valgerdur; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Elsevier BV, 2019-12-17)
    Background: Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not established. Low levels of Lp(a) have been associated with type 2 ...
  • Icon
    Profile of common prostate cancer risk variants in an unscreened Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Guðmundsson, Júlíus; 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; Manolescu, Andrei; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2017-12-20)
    To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male ...
  • Icon
    Whole genome characterization of sequence diversity of 15,220 Icelanders 
    Jónsson, Hákon; sulem, patrick; Kehr, Birte; Kristmundsdóttir, Snædís; Zink, Florian; Hjartarson, Eiríkur; Hardarson, Marteinn; Hjorleifsson, Kristjan; Eggertsson, Hannes; Guðjónsson, Sigurjón Axel; Ward, Lucas D.; Arnadottir, Gudny; Helgason, Einar A.; Helgason, Hannes; Gylfason, Arnaldur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Rafnar, Thorunn; Besenbacher, Soren; Frigge, Michael L.; Stacey, Simon N.; Magnússon, Ólafur T.; Þorsteinsdóttir, Unnur; Másson, Gísli; Kong, Augustine; Halldórsson, Bjarni; Helgason, Agnar; Gudbjartsson, Daniel; Stefansson, Kari (Springer Nature, 2017-09-21)
    Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide ...