• Accuracy and efficiency of germline variant calling pipelines for human genome data 

      Zhao, Sen; Agafonov, Oleg; Azab, Abdulrahman; Stokowy, Tomasz; Hovig, Eivind (Journal article; Peer reviewed, 2020)
      Advances in next-generation sequencing technology have enabled whole genome sequencing (WGS) to be widely used for identification of causal variants in a spectrum of genetic-related disorders, and provided new insight into ...
    • Changes in the gene expression profile during spontaneous migraine attacks 

      Kogelman, Lisette J.A.; Falkenberg, Katrine; Buil, Alfonso; Erola, Pau; Courraud, Julie; Laursen, Susan Svane; Michoel, Tom Luk Robert; Olesen, Jes; Hansen, Thomas F. (Journal article; Peer reviewed, 2021)
      Migraine attacks are delimited, allowing investigation of changes during and outside attack. Gene expression fluctuates according to environmental and endogenous events and therefore, we hypothesized that changes in RNA ...
    • Model-based exploration of hypokalemia in dairy cows 

      Plöntzke, Julia; Berg, Mascha; Ehrig, Rainald; Leonhard-Marek, Sabine; Müller, Kerstin Elisabeth; Röblitz, Susanna (Journal article; Peer reviewed, 2022)
      Hypokalemia in dairy cows, which is characterized by too low serum potassium levels, is a severe mineral disorder that can be life threatening. In this paper, we explore different originating conditions of hypokalemia—reduced ...
    • The salmon louse genome may be much larger than sequencing suggests 

      Wyngaard, Grace; Skern-Mauritzen, Rasmus; Malde, Ketil; Prendergast, Rachel; Peruzzi, Stefano (Journal article; Peer reviewed, 2022)
      The genome size of organisms impacts their evolution and biology and is often assumed to be characteristic of a species. Here we present the first published estimates of genome size of the ecologically and economically ...