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Fig. 1 | Genome Medicine

Fig. 1

From: Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Fig. 1

Four complex structural variants identified by genome sequencing. Plots show changes in coverage of short-read WGS (normalised depth t score using CNView, n = 250) [48]. Schematic models show the possible sequences of mutational events leading to the formation of the confirmed cxSVs, including putative intermediate derivative chromosomes where relevant. Sizes of fragments are approximately to scale where possible. An extended version of this figure showing breakpoint junction sequences is provided in Additional file 1: Figure S5, and alternative models for P4 are provided in Additional file 1: Figure S2. a A duplication-inversion-inversion-deletion causes Coffin-Siris syndrome in P1. b A deletion-inversion-duplication causes intellectual disability and seizures in P2. c A deletion-inversion-deletion causes cone-rod dystrophy in P3. d A duplication-inversion-duplication overlaps with CDKL5 in P4, who had neonatal hypoxic-ischaemic encephalopathy. Oxford Nanopore Technology (ONT) long-read WGS confirms the presence of a disrupted (J2) and intact (J6) copy of the gene. Only paternally inherited reads overlapping the junction breakpoints are shown

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