Developing an optical DNA mapping toolbox to identify chromosomal translocations in acute myeloid leukemia

Paper in proceeding, 2019

We present a method based on CRISPR/Cas9 technology and optical DNA mapping (ODM) for clinical diagnosis of chromosomal translocations in Acute Myeloid Leukemia. CRISPR/Cas9 is used to cut-out genomic regions of interest, which are then differentially stained, stretched inside nanochannels and imaged. Sequence-dependent intensity pattern of stretched molecules enable studying linear association of genomic regions and pinpoint structural variations. Our method can reveal DNA structural details on length-scales that are difficult to address by state-of-the-art molecular diagnostic approaches. This manuscript reports proof-of-concept results for CRISPR/Cas9 excision of a fragment in the E.coli genome and high-fidelity mapping of the human genome.