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.

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Liqun Jiang, Aparna Pallavajjala, Jialing Huang, Laura Morsberger, Christopher Gocke, Ying Zou Source Type: research