Mastermind Genomic Search Engine Now Filters Evidence by Phenotype – Critical for the Genetic Interpretation of Rare Diseases
Genomenon® announced the release of Mastermind® version 2.0. The Genomic Search Engine now includes the ability to search the entirety of the genomic literature by phenotypes (symptoms). This new functionality will further accelerate diagnosis of patients with genetic and rare diseases.
Patients, particularly those with rare diseases, don’t always have a name for their condition. This makes it very difficult to diagnose and treat their disease. The ability to search the genetic literature by symptoms (following the Human Phenotype Ontology, or HPO) helps clinicians narrow their diagnosis to the appropriate disease and treatment.