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Fig. 5 | Genome Medicine

Fig. 5

From: Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population

Fig. 5

Enrichment of annotated regulatory features. a Odds ratios (ORs) for significantly enriched regulatory features (overall set) between suggested causal deletion candidates and other deletion candidates. The largest effect was seen for Ensembl promoters (OR = 9.35) while chromatin states such as heterochromatin showed a negative enrichment effect (OR = 0.45). b ORs for significantly enriched GM12878-specific regulatory features between suggested causal deletion candidates and other deletion candidates. The largest effect was seen for the super-enhancers (OR = 4.97), with the active promoter predicted chromatin state also showing large effect (OR = 4.94). Negative enrichment effect was seen for the heterochromatin state (OR = 0.42)

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