Cas9-directed long-read sequencing to increase the resolution of optical genome mapping to single basepair level

Leukemias are clinically and genetically heterogeneous. The type of genetic aberration is important for progression prognosis and choice of treatment. Karyotyping, SNP-Array and FISH are the standard-of-care (SOC) methods in leukemia diagnostics. Optical genome mapping (OGM) is a technique that can detect different types of structural aberrations and is able to replace the SOC methods in one technique.

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