Version 11.24 of DECIPHER has been released. Improvements in this release include the following new features.

A new sequence variant ACMG/AMP pathogenicity interface is now available that provides predictions for the application of criteria based on published guidelines. The user must use their expert knowledge of the variant data, and the patient, to decide if a prediction is valid for a criterion, and if relevant, accept it. The prediction ruleset for each criteria can be viewed by clicking on the information icon next to each prediction. Information is provided that indicates if the variant meets, or does not meet, the rules for applying each criteria. Predictions are provided for the criterion: BA1, BS1, BP4, BP7, PVS1, PS1, PS2, PP3, PM2, PM6. An early version of the prediction ruleset was used to determine a provisional variant classification for a subset of patients in the Deciphering Developmental Disorders (DDD) study (Wright et al., 2023).

ClinGen Variant Curation Expert Panel recommendations are now displayed on gene pages. Clicking on the name of the expert panel/disease opens a modal with a link to the full recommendations in the ClinGen Criteria Specification (Cspec) Registry.

ACMG secondary finding information displayed on gene pages have been updated to v3.2, which includes the addition of CALM1, CALM2, and CALM3.

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