Blar i NTNU Open på forfatter "Vold, Trine"

Viser treff 1-3 av 3

    • A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes 

      Hansen, Maren Fridtjofsen; Neckmann, Ulrike; Lavik, Liss Anne; Vold, Trine; Gilde, Bodil; Toft, Ragnhild Karlgård; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, ...

    • Detecting copy number variation in next generation sequencing data from diagnostic gene panels 

      Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Journal article; Peer reviewed, 2021)
      Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...

    • Detecting copy number variation in next generation sequencing data from diagnostic gene panels 

      Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2021)
      Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...