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Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping

4 Feb 2022

Abstract excerpt

Acute lymphoblastic leukemia (ALL) is a malignancy that can be subdivided into distinct entities based on clinical, immunophenotypic and genomic features, including mutations, structural variants (SVs), and copy number alterations (CNA). Chromosome banding analysis (CBA) and Fluorescent In-Situ Hybridization (FISH) together with Multiple Ligation-dependent Probe Amplification (MLPA), array and PCR-based methods...

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PMID: 35119131
DOI: 10.1002/ajh.26487

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