• Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer 

      Nakken, Sigve; Saveliev, Vladislav; Hofmann, Oliver; Møller, Pål; Myklebost, Ola; Hovig, Eivind (Journal article; Peer reviewed, 2021)
      The value of high-throughput germline genetic testing is increasingly recognized inclinical cancer care. Disease-associated germline variants in cancer patients areimportant for risk management and surveillance, surgical ...
    • Patterns of genomic evolution in advanced melanoma 

      Birkeland, Einar Elvbakken; Zhang, Shan; Poduval, Deepak; Geisler, Jürgen; Nakken, Sigve; Vodak, Daniel; Meza, Leonardo Zepeda; Hovig, Eivind; Myklebost, Ola; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2018-07-10)
      Genomic alterations occurring during melanoma progression and the resulting genomic heterogeneity between metastatic deposits remain incompletely understood. Analyzing 86 metastatic melanoma deposits from 53 patients with ...
    • 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 ...
    • Sample-Index Misassignment Impacts Tumour Exome Sequencing 

      Vodak, Daniel; Lorenz, Susanne; Nakken, Sigve; Aasheim, Lars Birger; Holte, Harald; Bai, Baoyan; Myklebost, Ola; Meza, Leonardo Zepeda; Hovig, Eivind (Peer reviewed; Journal article, 2018-03-28)
      Sample pooling enabled by dedicated indexes is a common strategy for cost-effective and robust high-throughput sequencing. Index misassignment leading to mutual contamination between pooled samples has however been described ...