Pathogenic Matrix

When you scroll down to the Genes section of VarSome, you will see a new colour coded Gene Pathogenicity Matrix. This new feature provides a high-level overview of the spectrum of variants in a single gene and their impact. The data are collated from UniProt, ClinVar and VarSome user classifications, using all available transcripts.

This should make it easy to see whether, for example, frameshift variants are generally pathogenic, or synonymous variants usually benign, in any given gene.

A tick box allows you to switch between absolute numbers or percentages across each line representing a given coding impact.

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