Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies.

doi:10.1016/j.jmoldx.2021.01.011

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Article

Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies.

The Journal of molecular diagnostics : JMD - 1 Apr 2021

Jiang Liqun, Pallavajjala Aparna, Huang Jialing, Haley Lisa, Morsberger Laura, Stinnett Victoria, Hardy Melanie, Park Rebecca, Ament Candice, Finch Alexandra, Shane Alison, Parish Rebecca, Nozari Azin, Long Patty, Adams Emily, Smith Kirstin, Parimi Vamsi, Dougaparsad Sam, Long Lori, Gocke Christopher D, Zou Ying S

Abstract excerpt

Copy number variants (CNVs) and gene mutations are important for diagnosis and treatment of myeloid malignancies. In a routine clinical setting, somatic gene mutations are detected by targeted next-generation sequencing (NGS) assay, but CNVs are commonly detected by conventional chromosome analysis and fluorescence in situ hybridization (FISH). The aim of this proof-of-principle study was to investigate the...

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PMID: 33577993
DOI: 10.1016/j.jmoldx.2021.01.011

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