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Fig. 5 | Genome Biology

Fig. 5

From: MMSplice: modular modeling improves the predictions of genetic variant effects on splicing

Fig. 5

Predictions on ClinVar variants. a Variants are first mapped to potentially affected exons. Variants in the exon or in the intron, within La nt of the acceptor site or within Ld nt from the donor site are considered to affect splicing of the exon. Afterwards, reference and alternative sequences are retrieved and subjected to MMSplice for prediction. MMSplice gives a prediction for each variant-exon pair. b Model comparison on classifying pathogenicity of ClinVar splice variants. Models were trained and evaluated in 10-fold cross-validation. Error bars indicate one standard deviation calculated across folds. The six leftmost models (blue) are incrementally added to the ensemble model: “+phyloP+CADD ” uses all five previous models as well as phyloP and CADD scores. Performance of MMSplice and SPANR alone as well as their performance with phyloP and CADD scores are on the right (orange)

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