Individual Licenses
Discounted licenses are available for Small Groups, Institutions and Residency Programs.
Who is the software for?
The software may be used only by medical professionals (doctors, nurse practitioners, genetic counselors, bioinformaticists, medical librarians, laboratory technician, or research and development scientists developing clinical laboratory processes and supervised trainees in these professions).
This software compares a patient’s findings to the findings in 9,368 diseases. It suggests a Differential Diagnosis and identifies other findings and lab tests that may be useful in reaching a diagnosis. The tool includes the 4,817 genes with germline changes convincingly associated with human disease. It also includes many nongenetic diseases, with particular strength in neurology and rheumatology.
Comparison of Top Features
| Basic Tier Phenome Analyzer | Top Tier Genome-Phenome Analyzer | |
|---|---|---|
| Differential diagnosis display | ||
| Useful finding displays (clinical & tests) | ||
| Add findings (positives with onset, and negatives) | ||
| Assess diagnosis ("explainable AI") | ||
| Links about current disease and finding | ||
| Family history: specify in a few clicks | ||
| Patient Summary: save and reload | ||
| Automated SOAP note | ||
| Prognosis Table output explaining what to expect | ||
| Automatic HPO (Human Phenotype Ontology) codes for findings | ||
| Automatic IMO codes for diseases | ||
| Loss of heterozygosity analysis (microarrays) | ||
| Variant table upload for proband, trio or beyond the trio | ||
| Pertinence-based clinical correlation of genes to findings | ||
| PED file upload for beyond the trio | ||
| Fast focus on the gene zygosities most pertinent for your patient | ||
| Genome report output including up to 4 diagnoses | ||
| Discovery report for genes with unknown clinical phenotype |