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Browsing by Subject "DNA-rannsóknir"

Browsing by Subject "DNA-rannsóknir"

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  • Hermanowicz, Stefan (University of Iceland, School of Health Sciences, Faculty of Medicine, 2019-05)
    The DNA damage response is crucial to maintaining the integrity of DNA and the health of a cell. Unrepaired lesions within the DNA can lead to genomic instability and potentially aid in the formation of diseases such as cancer. Some cancers possess ...
  • 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, ...
  • 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. ...
  • Czamara, Darina; Sigurdsson, Engilbert; Stefansson, Kari (Springer Science and Business Media LLC, 2019-06-11)
    Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions ...
  • Guðmundsson, Bjarki; Þormar, Hans G; Sigurðsson, Albert; Dankers, Wendy; Steinarsdóttir, Margrét; Hermanowicz, Stefan; Sigurðsson, Stefán; Ólafsson, Davið; Halldorsdottir, Anna; Meyn, Stephen; Jonsson, Jon J. (Oxford University Press (OUP), 2018-07-24)
    DNA damage assays have various limitations in types of lesions detected, sensitivity, specificity and samples that can be analyzed. The Northern Lights Assay (NLA) is based on 2D Strandness-Dependent Electrophoresis (2D-SDE), a technique that separates ...
  • 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, Þórunn; 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 ...