AI Shortlist module

The AI shortlist prioritizes genes of known and unknown significance within the shortlist. The AI Shortlist module allows you to refine variant prioritization based on analysis type.

Organization settings > Workbench & Pipeline > AI shortlist

1.1 Rare Diseases

The AI shortlist prioritizes genes of known and unknown significance within the shortlist.

• Focused Mode: The AI shortlist prioritizes genes with both known and unknown significance. The shortlist will consist of a fixed number of variants: 10 single-nucleotide variants (SNV) and 5 structural variants (SV).

• Discovery Mode: The AI shortlist will prioritize known and unknown genes, and will be limited to likely solving variants.

1.2 Carrier

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.