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Fig. 5 | Genome Medicine

Fig. 5

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

Fig. 5

NGM identified a hemizygous and heterozygous multi-exon deletion in a DMD patient and his biological mother, respectively. a Hemizygous deletion in the patient. Top: visual representation of the deletion (red) between the reference (blue) and patient (yellow) maps. Middle: representation of long molecules used to construct the sample maps. Bottom: Ref-seq locations on the X chromosome indicating possible size of the deletion based on MPLA and size identified using the NGM platform. b Heterozygous deletion in the biological mother. Top: The normal wild type allele (yellow) can be seen above reference (blue) where all nicking sites align to reference map. This is in contrary to the second allele (yellow) containing the deletion shown below the reference (blue) map. Maps were generated using Nt.BspQI nicking endonuclease

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