DECIPHER v11.34 released

Mitochondrial gene predictive scores

Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in gnomAD compared to a mitochondrial genome constraint model under neutrality selection (i.e. no selection). For protein coding genes, scores for missense and loss-of-function variants are displayed. For genes that encode RNA’s, scores for RNA variants are available. For further information about these scores, see Lake et al., 2024.

ProtVar for protein variant annotations

‪Links to ProtVar are now provided from the protein browser. ProtVar provides functional annotations for missense variants indicating the severity of the variant, in addition to structural annotations showing the relative position of protein pockets and interfaces to the variant.

ClinGen variant curation expert panel recommendations 

ClinGen variant curation expert panel recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease. In the pathogenicity evidence interface the recommendations for each criteria are displayed. These recommendations are retrieved from the Criteria Specification (CSpec) Registry.

Gene and protein predictive scores 

Descriptive names for gene and protein predictive scores are now displayed on gene pages to assist in demystifying these scores and making them easier to understand.

PubMed search 

The bespoke PubMed search on gene pages is now displayed in bold. This link opens a browser tab with a PubMed search displaying publications that include the gene of interest.