Filters

Variants can be filtered by:

• Quality Filters: Variant quality metrics

• Polymorphism Filters: Alternative allele frequencies and genotype counts in public and internal databases

• Variant Type Filters and Variant Effect Filters: Variant consequences, ACMG pathogenicity classes, variant types (sequence, structural, mtDNA), and whether and how the variant is classified in clinical variation databases.

• Gene Filters: Disease-associated genes, genes of unknown significance, ACMG clinically actionable genes, cancer-associated genes, candidate gene list, etc.

• Phenomatch Filters: Gene-disease associations that match the proband's clinical phenotypes

• Inheritance Filters: Select a mode of inheritance that is compatible with the genotypes and phenotypes of affected and healthy family members

• Zygosity Filters: Filter by genotypes in selected samples

• User Filters: Variants tagged by the user or the AI Shortlist, manually added variants, and other organization level filters.

Note: Quality, Polymorphism, and Variant filters can operate in either a Simple or Advanced mode.

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In the Filters tab of the Filters/Presets panel, the vertical ellipsis button offers options:

• Clear - deselect all filters and reveal all the variants;

• Reset to Default - set default filters values: moderate/high quality (Quality Filter), low/moderate/high severity (Variant Filters), and Het/Hom zygosity in the proband (Zygosity Filters);

• 🆕 34.0+: Save as preset - create a new preset based on the currently active filters. ​