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Analytic Validation of Optical Genome Mapping in Hematological Malignancies

9 Dec 2023

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), which have been employed globally for the past three decades, have significant limitations in terms of resolution and the number of recurrent aberrations that can be simultaneously assessed, respectively. Next-generation...

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PMID: 38137484
DOI: 10.3390/biomedicines11123263

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