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. 2020 Sep;30(9):1228–1242. doi: 10.1101/gr.252106.119

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© 2020 Lopez et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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Figure 4. — Neurodevelopmental genes are recurrently targeted by structural variations in neuroblastoma. (A–C) Function enrichment analysis bar plots for genes recurrently altered based on breakpoint analyses: (A) SJ-BPs; (B) RD-BPs; (C) CN-BPs. Analysis includes gene sets associated with diseases (green), Gene Ontology (purple), and Pathways (red). (D,E) Gene Set Enrichment Analysis across the signature of high- versus low-risk tumors from the HumanExon array show enrichment of neuronal and synapse part (D) and autism disorder predisposition genes (E). (F) Volcano plot showing differential expression between high- and low-risk highlighting genes with recurrent SVs and their functional classification. (G) Subtype-specific high- versus low-risk differential expression analysis of 77 recurrently altered genes from Figure 3I shown as scatter plot: (MNA) x-axis; (HR-NA) y-axis). (D–G) Analysis was replicated in two data sets: HuEx arrays (here) and RNA-seq (Supplemental Fig. S21A–D).