Phenomatch Filters

The Phenomatch Filters highlight variants located in the genes whose phenotypic annotation matches the proband's clinical presentation. When one of the Phenomatch Filters is active, the results are limited to the variants that are top-rated by the corresponding algorithm:

• Phenomatch - High Specificity – strictly filters genes with disease phenotypes matching the exact patient HPO phenotypes.

• Phenomatch - Powered by AI – filters genes with disease phenotypes loosely matching the patient HPO phenotypes.

• Phenomeld (30.0+) - the latest and most refined phenotypic matching model based on Phenomatch - Powered by AI.

• Phenomatch with Unknown – filters genes of unknown significance based on indirect links to patient phenotypes (including mouse models, gene families, pathways, etc.).