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Fig. 4 | Genome Medicine

Fig. 4

From: Using multi-scale genomics to associate poorly annotated genes with rare diseases

Fig. 4

Each of the 16 clades in addition to Eukaryota contributes to the correct identification of the disease-causing gene. Each column in the heatmap represents a clade while each row represents the “true” disease-causing gene in a patient exome from the 109-exome patient dataset. Only the genes that achieved an overall significant K-S test p-value (< 0.05) using the co-evolution analysis are displayed (71 cases). Each entry in the heatmap is colored by the -log 10 of the K-S test p-value that was run on each clade separately. The entries colored in red represent the significant p-values (> -log10(0.05)). Light grey entries indicate non-significant p-values. Entries, where the gene is not found to have an ortholog in a certain clade, are colored off-white. The rows are clustered according to the p-values. The column on the left indicates the combined -log10 of the p-value obtained by running the K-S test after merging together the coevolving genes across the clades. In four cases (HUWE1, COL3A1, MYO7A, and CYP21A2), a significant p-value was obtained by none of the clades, but a significant combined p-value was still achieved by merging the co-evolving genes from all the clades

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