• 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 ...
    • 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 ...
    • Clonal evolution after treatment pressure in multiple myeloma: heterogenous genomic aberrations and transcriptomic convergence 

      Misund, Kristine; Hofste op Bruinink, Davine; Coward, Eivind; Hoogenboezem, Remco M.; Rustad, Even Holth; Sanders, Mathijs A.; Rye, Morten Beck; Sponaas, Anne-Marit; van der Holt, Bronno; Zweegman, Sonja; Hovig, Eivind; Meza, Leonardo Zepeda; Sundan, Anders; Myklebost, Ola; Sonneveld, Pieter; Waage, Anders (Journal article; Peer reviewed, 2022)
      We investigated genomic and transcriptomic changes in paired tumor samples of 29 in-house multiple myeloma (MM) patients and 28 patients from the MMRF CoMMpass study before and after treatment. A change in clonal composition ...
    • Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy 

      Venizelos, Andreas; Engebrethsen, Christina; Deng, Wei; Geisler, Jürgen; Geisler, Stephanie; Iversen, Gjertrud Titlestad; Aas, Turid; Aase, Hildegunn Siv; Seyedzadeh, Manouchehr; Steinskog, Eli Sihn Samdal; Myklebost, Ola; Nakken, Sigve; Vodák, Daniel; Hovig, Eivind; Meza, Leonardo Zepeda; Lønning, Per Eystein; Knappskog, Stian; Eikesdal, Hans Petter (Journal article; Peer reviewed, 2022)
      Background Subclonal evolution during primary breast cancer treatment is largely unexplored. We aimed to assess the dynamic changes in subclonal composition of treatment-naïve breast cancers during neoadjuvant ...
    • Identifying elemental genomic track types and representing them uniformly 

      Gundersen, Sveinung; Kalaš, Matúš; Abul, Osman; Frigessi, Arnoldo; Hovig, Eivind; Sandve, Geir Kjetil (Peer reviewed; Journal article, 2011-12-30)
      Background: With the recent advances and availability of various high-throughput sequencing technologies, data on many molecular aspects, such as gene regulation, chromatin dynamics, and the three-dimensional organization ...
    • Improving public cancer care by implementing precision medicine in Norway: IMPRESS-Norway 

      Helland, Åslaug; Russnes, Hege Elisabeth Giercksky; Fagereng, Gro Live; Al-Shibli, Khalid Ibrahim; Andersson, Yvonne; Berg, Thomas; Bjørge, Line; Blix, Egil Støre; Bjerkehagen, Bodil; Brabrand, Sigmund; Dalhaug, Astrid; Dietzel, Dalia; Dønnem, Tom; Enerly, Espen; Flobak, Åsmund; Fluge, Sverre; Gilje, Bjørnar; Gjertsen, Bjørn Tore; Grønberg, Bjørn Henning; Grønås, Kari; Guren, Tormod Kyrre; Hamre, Hanne Mari; Haug, Åse; Heinrich, Daniel; Hjortland, Geir Olav; Hovig, Eivind; Hovland, Randi; Iversen, Ann-Charlotte; Janssen, Emiel; Kyte, Jon A; Gythfeldt, Hedda; Lothe, Ragnhild Adelheid; Lund, Jo-Åsmund; Meza, Leonardo Zepeda; Munthe-Kaas, Monica Cheng; Nguyen, Olav Toai Duc; Niehusmann, Pitt; Nilsen, Hilde; Puco, Katarina; Ree, Anne Hansen; Riste, Tonje Bøyum; Semb, Karin; Steinskog, Eli Sihn Samdal; Stensvold, Andreas; Suhrke, Pål; Tennøe, Øyvind Krohn; Tjønnfjord, Geir Erland; Vassbotn, Liv Jorunn; Aas, Eline; Aasebø, Kristine Øverås; Tasken, Kjetil; Smeland, Sigbjørn; Cameron, Marte Grønlie (Journal article; Peer reviewed, 2022)
      Background Matching treatment based on tumour molecular characteristics has revolutionized the treatment of some cancers and has given hope to many patients. Although personalized cancer care is an old concept, renewed ...
    • Norwegian e-Infrastructure for Life Sciences (NeLS) 

      Tekle, Kidane M; Gundersen, Sveinung; Klepper, Kjetil; Bongo, Lars Ailo; Raknes, Inge Alexander; Li, Xiaxi; Zhang, Wei; Andreetta, Christian; Mulugeta, Teshome Dagne; Kalaš, Matúš; Rye, Morten Beck; Hjerde, Erik; Antony Samy, Jeevan Karloss; Fornous, Ghislain; Azab, Abdulrahman; Våge, Dag Inge; Hovig, Eivind; Willassen, Nils Peder; Drabløs, Finn; Nygård, Ståle; Petersen, Kjell; Jonassen, Inge (Peer reviewed; Journal article, 2018)
      The Norwegian e-Infrastructure for Life Sciences (NeLS) has been developed by ELIXIR Norway to provide its users with a system enabling data storage, sharing, and analysis in a project-oriented fashion. The system is ...
    • 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 ...