Phenomatch Filters
Last updated
Last updated
The Phenomatch Filters highlight variants located in the genes whose phenotypic annotation matches the proband's clinical presentation.
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.).