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Fig. 1 | Genome Medicine

Fig. 1

From: Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

Fig. 1

Characterization of de novo SVs in a cohort of individuals with neurodevelopmental disorders. a Frequencies of clinical phenotypic categories described for the 39 included individuals based on the categories defined by HPO. Nervous system abnormalities are divided into 4 subcategories. b Number of de novo breakpoint junctions per SV type identified by WGS of 39 included patients. Most detected de novo SVs are part of complex genomic rearrangements, which are defined by the involvement of more than 3 breakpoint junctions (SVs with 1 or 2 breakpoint junctions are considered simple rearrangements). c Number of cases in which WGS analysis identified new, additional, or similar SVs compared to microarray-based copy number profiling. d Schematic representation of additional genomic rearrangements that were observed by WGS in 5 individuals. For each patient, the top panel shows the de novo SVs identified by arrays or karyotyping and bottom panel shows the structures of the SVs detected by WGS. The WGS data of individual P8 revealed complex chromoanasynthesis rearrangements involving multiple duplications and an insertion of a fragment from chr14 into chr3. Individual P11 has an insertion of a fragment of chr9 into chrX that was detected as a copy number gain by array-based analysis (Additional file 2: Figure S2). The detected copy number gains in individuals P12 and P21 show an interspersed orientation instead of a tandem orientation. The translocation in patient P20 appeared to be more complex than previously anticipated based on karyotyping results, showing 11 breakpoint junctions on 3 chromosomes

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