Article
Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies
2022-12-29
Abstract excerpt
Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in situ hybridization (FISH), employed globally for the past three decades have significant limitations in the resolution or the number of recurrent aberrations that can be simultaneously assessed, respectively. Next-generation sequencing (NGS) based te...
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Identifiers and source
- Literature Corpus work
- 8e778137-38cc-59be-8798-f1a50705a996
- DOI
- 10.1101/2022.12.27.22283973
