Phenomatch filters

The Phenomatch filters identify variants in genes whose disease phenotypes best match the proband’s clinical presentation, using proprietary phenotypic match models to rank genes by relevance.

There is a corresponding filter for each phenotypic match model:

• Phenomeld: Most advanced model; provides the most accurate gene prioritization.

• Phenomatch – Powered by AI: Finds genes with loose phenotype similarity to the patient’s HPO terms.

• Phenomatch – High specificity: Finds genes with exact phenotype match to the patient’s HPO terms.

• Phenomatch with unknown: Finds genes of unknown significance through indirect associations (pathways, mouse models, gene families).

Default values

When filters are reset to default, the Phenomatch filters are not applied.