Skip to main content
Fig. 1 | Genome Medicine

Fig. 1

From: A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Fig. 1

Conservation, predicted splice disruption, and constraint at near-splice and branchpoint positions across 207,548 CDS features in protein-coding genes. A Sequence logos and schematic indicating the position of conserved splicing motifs relative to exon/intron boundaries. Positional weight matrices were derived from the human reference sequence at our positions of interest (defined in the “Methods” section). B The mean phyloP 100-way scores at splicing positions. Error bars indicate 95% confidence intervals. C SpliceAI scores for all possible near splice SNVs. Scores represent the mean probability that any variant at this position disrupts splicing, as predicted by SpliceAI (see the “Methods” section). Error bars represent the 95% confidence interval. D Mutability-adjusted proportion of singletons (MAPS) for both coding and near-splice SNVs. Error bars indicate 95% confidence intervals. Positions with a significantly higher MAPS than synonymous variants are indicated with open circles (see the “Methods” section). For branchpoint positions, dark blue points represent all putative branchpoints, whereas light blue points represent the branchpoints with a LaBranchoR score > 0.85

Back to article page