23. Concurrent detection of CNVs and mutations using a myeloid malignancy NGS panel: Is it ready for prime time?

      Aims: Genetic abnormalities including copy number variants (CNVs, gains and losses), and gene mutations are important for diagnostics and treatment of myeloid malignances. Somatic gene mutations can be detected by next generation sequencing (NGS), but CNVs are usually detected by karyotyping and fluorescence in situ hybridization (FISH). The aim of this proof-of-principle study was to investigate the feasibility of using the same NGS data to simultaneously detect both somatic mutations and CNVs.
      To read this article in full you will need to make a payment


      Subscribe to Cancer Genetics
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect