Next-generation sequencing (NGS) technologies are transforming the field of cancer research, detection and diagnostics due to the wealth of genetic information obtained through different sequencing approaches.  Targeted resequencing for mutation detection and RNA-Seq for gene fusion identification and detection are some of the areas where NGS methods have offered technology advantages.

NuGEN’s broad portfolio of innovative DNA and RNA library preparation systems, including the Ovation Target Enrichment System and Ovation Fusion Panels, provides unique solutions for mutation detection and discovery in oncology.

Disease progression: Understanding different outcomes

Dr. Shain and coworkers take an evolutionary look at order of occurrence of pathogenic mutations in melanoma. Their study looks at 37 FFPE samples and 293 cancer relevant genes with DNA prepared using the Ovation® Ultralow Library System. Their work characterizes the series of genetic alternations that occur during melanoma progression to define the trajectory of different melanoma subtypes.   

Exome approach: Identifying treatment targets

Using a whole-exome, targeted exome, and/or transcriptome sequence data for 216 malignant pleural mesothelioma tumors, the Brigham and Women's Hospital- and Genentech-led team narrowed in on genes and pathways with recurrent alterations in the rare but aggressive lung cancer, detecting a few potential treatment targets.  The researchers use the Ovation® Cancer Panel to screen 103 tumor samples comprising one of their study sets.

Tumor immunotherapy: Guidance by RNA-Seq

In this publication, Koyama, Akbay, and Li et. al. study the development of resistance to tumor immunotherapy using mouse models of lung adenocarcinoma and define biomarkers associated with adaptive resistance to PD-1 blockade. The researchers use the Ovation® Universal RNA-Seq System to analyze T cells and tumor cells in immunotherapy-resistant and untreated tumors.