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Fig. 4 | Genome Medicine

Fig. 4

From: Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Fig. 4

Deletions identified in four DMD probands. For each case, the blue bar represents the reference X chromosome. The yellow bar represents the sample map generated based on long molecule assembly of the patient’s genome. The black vertical lines indicate Nt.BspQI endonuclease cut sites and corresponding matches between reference (blue) and sample (yellow) genomes. The lines between reference and assembled map show alignment of the two maps. The red area indicates the deletion where reference (blue) endonuclease sites are missing from the assembled map (yellow). The locations of the DMD exons are indicated at the top of the figure with vertical lines. Below each map, information such as size and type of the SV and deleted exons can be found

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