AI Shortlist module

The AI shortlist prioritizes variants, helping you focus on the most relevant candidates.

In the AI Shortlist module card, you can select an AI shortlist mode for rare disease analysis and one for carrier analysis to match your workflow. Once a mode is changed, it will apply to all new case analyses, including reanalysis.

To change the AI Shortlist modes for rare disease analysis and carrier analysis, users must have the Manage Auto Analysis Tier IAM scope.

In legacy cloud environments, this permission is granted through the EMG role.

Rare disease analysis

Emedgene offers two analysis modes for rare disease interpretation.

• Focused Mode: The Most Likely Candidates and Candidates list includes only variants found in genes known to be associated with disease. Variants that are highly ranked but located in genes of unknown significance (GUSs) are labeled as Most likely GUS and Candidate GUS.

• Discovery Mode: The Most Likely Candidates and Candidates list is not restricted to variants in known disease-associated genes. Variants in both known and unknown genes are evaluated and ranked together in the same list.

The focused mode of the AI shortlist for rare diseases is referred to as "Tier v0," and the discovery mode is referred to as "Tier v2" in the Versions tab.

Carrier analysis

The AI shortlist will prioritize variants reported as pathogenic or likely pathogenic in any known variant databases or variants with high severity.

• Known Pathogenic: The AI shortlist will prioritize variants reported as pathogenic or likely pathogenic in any known variant databases.

• High Severity: The AI shortlist will prioritize variants with high severity.

• Both: The AI shortlist will prioritize variants reported as pathogenic or likely pathogenic in any known variant databases or variants with high severity.