• Personal Cancer Genome Reporter: Variant interpretation report for precision oncology 

      Nakken, Sigve; Fournous, Ghislain; Vodak, Daniel; Aasheim, Lars Birger; Myklebost, Ola; Hovig, Eivind (Peer reviewed; Journal article, 2018-05)
      Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations. There is a general scarcity of tools that can (i) systematically interrogate cancer genomes in the ...
    • ramr: an R/Bioconductor package for detection of rare aberrantly methylated regions 

      Nikolaienko, Oleksii; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2022)
      Motivation: With recent advances in the field of epigenetics, the focus is widening from large and frequent disease- or phenotype-related methylation signatures to rare alterations transmitted mitotically or transgenerationally ...