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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.
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