Abstract
Optical genome mapping (OGM) is a promising alternative to traditional cytogenetic approaches. The technique evaluates ultra-high molecular weight DNA, allowing high resolution and genome wide assessment of structural and copy number variants (CNVs). OGM (Saphyr, Bionano Genomics) was utilised to analyse 50 patients with a variety of haematological malignancies (AML, B-ALL, MDS/MPN, MM, CML, CMML, T-ALL, PV, MF, CLL, and lymphoma). Variant concordance with the current standard genomic techniques of FISH, SNP-microarray and G-banded karyotype was evaluated.
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