Phenome Analyzer

$400 $1.10/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
  • Loss of heterozygosity analysis (microarrays)

Genome-Phenome Analyzer

$1,200 $3.29/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 7,184 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 3,960 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")
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
Loss of heterozygosity analysis (microarrays)
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