Diagnostic Decision Support
This software compares a patient's findings to the findings in 6,298 diseases. It suggests a "differential diagnosis" and identifies other findings and lab tests that may be useful in reaching a diagnosis. It uses detailed information about the patient to assist with diagnosis, so it is best to watch one of the demo videos before using it.
The tool includes the 3,475 genes with convincing germline human disease phenotypes. It also includes many nongenetic diseases, with particular strength in neurology and rheumatology.
US patents 6,212,519, 6,754,655, 7,742,932 and 9,524,373.
Note: A version not requiring Java is expected in 2017
|Troubleshoot: Windows Macintosh||Demo videos||Phenome version manual|