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Fig. 1 | Genome Biology

Fig. 1

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

Fig. 1

Individual modules of MMSplice and their combination to predict the effect of genetic variants on various splicing quantities. a MMSplice consists of six modules scoring sequences from donor, acceptor, exon, and intron sites. Modules were trained with rich genomics dataset probing the corresponding regulatory regions. b Modules from a are combined with a linear model to score variant effects on exon skipping (ΔΨ), alternative donor (ΔΨ3), or alternative acceptor site (ΔΨ5), splicing efficiency, and they are combined with a logistic regression model to predict variant pathogenicity. La and Ld stand for the length of intron sequence taken from the acceptor and donor side respectively

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