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Prioritization of whole-exome data by random-walk analysis of protein-protein interactions

Frequently Asked Questions (FAQs)

How does the Exomizer define the predicted pathogenicity of a variant?

The Exomizer uses data from the dbNSFP data that is originally derived from Polyphen2, MutationTaster, and SIFT. In our implementation, the single most damaging prediction is assigned to the variant in question, scaled such that 0.0 corresponds to completely benign, and 1.0 corresponds to maximally pathogenic. These predictions apply only to missense mutations. Additionally, arbitrary numerical pathogenicity predictions were assigned to the following classes of variant.