Filters tab
Use the Filters tab in the Filtering panel to narrow numerous variants down to those most relevant by applying dynamic filters.
Filter categories
Narrow variants by sequencing quality metrics such as depth, mapping quality, and confidence grade
Filter by allele frequency and genotype counts from public databases (e.g., gnomAD, ExAC) or your lab’s internal controls
Select by predicted consequences on genes or proteins, ACMG classes, or database classifications
Apply computational prediction scores for pathogenicity, conservation, splicing, or missense effects
Restrict results to genes of interest, such as disease–associated, candidate, ACMG actionable, or cancer–related genes
Highlight variants in genes with known disease associations matching the proband’s phenotypes
Filter variants according to inheritance patterns consistent with family genotypes and phenotypes
Show variants tagged by users, AI shortlist, or flagged at the organization level
Applying multiple filters at once may exclude important variants if thresholds are too strict. Start broad, then refine.
Filtering modes
Quality, Polymorphism, Variant effect, In silico prediction, and Evidence & Tags filters can operate in either a simple or advanced mode.
Use simple mode for quick, high-level filtering. For more detailed filtering with expanded options, choose advanced mode to gain deeper control over filter parameters.
Simple and advanced filtering modes operate independently.
Even with similar settings, results may differ due to variations in filtering logic and options available.
For example, setting Severity to "High" in simple mode might yield slightly different results than selecting all high severity Main effect options in advanced mode of Variant effect filters.
Actions
When the Filters tab of the Filtering panel is selected, click the vertical ellipsis in the top-left corner to access the following actions:
Clear
Clears all filters and displays all variants in the case.
Reset to default
Clears all filters and applies default filtering conditions (see below).
Note: The Reset to default action in the Filters tab behaves differently from the one in the Presets tab, where it clears only variant search refinements applied on top of the active preset group.
Save as preset
Saves the current filter configuration as a new preset to be reused across different cases.
Default filtering settings
When filters are reset to default, Emedgene applies a few essential baseline filters for a broad and reliable starting point for variant review. The table below lists the only filters automatically activated by default. All other filters remain inactive and impose no restrictions on the results unless the user turns them on manually.
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