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Fig. 3 | Genome Biology

Fig. 3

From: SVFX: a machine learning framework to quantify the pathogenicity of structural variants

Fig. 3

Orthogonal biological validations of somatic models in cancer. a This plot presents a mean conservation score comparison for genomic regions that overlap with predicted highly pathogenic deletions against benign deletions (left panel) and duplications (right panel) for a model where conservation was excluded from the original model. b This plot presents cancer gene enrichment values for coding regions that overlap with predicted highly pathogenic deletions against benign deletions (left panel) and duplications (right panel) for a model where overlap fraction with cancer genes was excluded from the original model. c Example showing the ubiquitin-mediated proteolysis pathway that is enriched among genes affected by highly pathogenic deletions on the pan-cancer level. Genes that are influenced by highly pathogenic deletions in this pathway are highlighted in red. d Example showing the adherens junction pathway, which is enriched among genes affected by highly pathogenic duplications on the pan-cancer level. Genes that are influenced by highly pathogenic duplications in this pathway are highlighted in red

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