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[Preprint]. 2023 Jan 25:2023.01.23.23284864. [Version 1] doi: 10.1101/2023.01.23.23284864

Figure 1. Germline P-LP variants in cancer predisposition genes across 786 neuroblastoma cases.

Figure 1.

Oncoprint of known cancer predisposition genes (CPGs) harboring rare germline variants classified as pathogenic (P) or likely pathogenic (LP). Samples without P-LP variants in these genes are not shown. Samples are ordered by COG risk group and annotated with patient clinical and tumor biologic features. Genes are color-coded according to mode of inheritance, when known. Bar chart to the right indicates the number of variants detected for each gene and whether pathogenicity was determined based on ClinVar or our modified InterVar automated assessment. All variants were manually reviewed for quality and evidence of pathogenicity.