Identify rare and new fusions of known genes
In a large systematic comparative study between OGM and classical cytogenetics, OGM identified novel, non-recurrent fusions never reported before. In both cases shown here, one of the two fusion partners is well known in leukemia as a gene fusion. These events were missed by classical cytogenetics either because of their low allelic frequencies or because of the targeted FISH approach classically used in a diagnostics context.
Neveling K, Mantere T, Vermeulen S, et al. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. Am J Hum Genet. 2021;108(8):1423-1435. doi: 10.1016/j.ajhg.2021.06.001.