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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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Literature Corpus work
8e778137-38cc-59be-8798-f1a50705a996
DOI
10.1101/2022.12.27.22283973
Open publication

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Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological MalignanciesDOI 10.1101/2022.12.27.22283973
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