Suzanne de Bruijn

60 Chapter 1.2 DNA-strands Label CTTAAG -motif across the genome Convert images to molecules Scan ultra-long DNA-strands Genome assembly to create consensus genome maps Compare patient versus control Deletion Translocation Insertion Inversion A Library preparation C Data processing B Data imaging Figure 5. Overview of the optical genome mapping technology. (A) The high-quality DNA is isolated and later labeled at a 6-mer motif across the genome. (B) The labeled DNA is linearized in order to take images of the label patterns in the DNA molecules and subsequently, images converted to the molecules. (C) These molecules are then utilized for genome assembly to generate consensus genome maps. The pattern of labels can be compared between the reference genome and affected individuals to identify structural variants. The shorter or longer distance between two labels indicates deletion or insertion, respectively. Translocations can be identified by mapping of a single region in the patient genome to two genomic regions in the reference. The inverted pattern of labels in a patient compared to that in the reference genome indicates the presence of an inversion.