In silico predictions filters

The In silico predictions filters allow filtering variants by in silico prediction tools score. The filters can operate in a Simple or Advanced mode.

Simple and advanced filtering modes operate independently.

Even with similar settings, results may differ due to variations in filtering logic and options available.

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Simple mode

Refine the variant list by setting minimum thresholds for aggregated in silico prediction scores:

• Missense prediction (All, Neutral, Damaging)

• Conservation (Low, Moderate, High)

• Splicing (Low, Moderate, High)

Advanced mode

Fine-tune the variant list by setting minimum thresholds for particular in silico prediction tools:

Missense prediction

REVEL score

PrimateAI3D prediction

CADD Phred score

Z-missense score

PLI score

Conservation

GERP_RS score

Splicing

SpliceAI DS AG score

SpliceAI DS AL score

SpliceAI DS DG score

SpliceAI DS DL score

Default values

When Filters are reset to default, the In silico predictions filters are set to their lowest thresholds—meaning no filtering is applied.