Individual Licenses

Discounted licenses are available for Small Groups, Institutions and Residency Programs.

Phenome Analyzer

$485 $1.33/day
  • Differential diagnosis display
  • Useful finding displays (clinical & tests)
  • Add findings (positives with onset, and negatives)
  • Assess diagnosis (“explainable AI”)
  • Tip links about current disease and finding
  • Family history: specify in a few clicks
  • Patient Summary: save and reload
  • Prognosis Table output explaining what to expect

Genome-Phenome Analyzer

$1,280 $3.51/day
All tools in Phenome Analyzer, plus:
  • Variant table upload for proband, trio or beyond the trio
  • PED file upload for beyond the trio
  • Picks out the gene zygosities most pertinent for your patient
  • Genome report output including up to 4 diagnoses
  • Discovery report for genes with unknown clinical phenotype

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 9,344 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 4,809 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