Supplementary Figure 1: Framework for training and evaluating six pathogenicity models. | Nature Genetics

Supplementary Figure 1: Framework for training and evaluating six pathogenicity models.

From: S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

Supplementary Figure 1

The splicing region is split into 6 independent regions as defined in Fig. 1c, and a separate model is trained for variants residing in each region. Given a set of variants to be scored, we calculate the S-CAP score for each variant by using the corresponding model associated with the region where the variant is found.

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